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FXN cDNA ORF clone, Homo sapiens(Human)

Gene Symbol FXN
Entrez Gene ID 2395
Full Name frataxin
Synonyms CyaY,FA,FARR,FRDA,X25
General protein information
Preferred Names

frataxin

Names

frataxin, mitochondrial
Friedreich ataxia protein

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

9

9q21.11

Summary This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016].
Disorder MIM:

606829

Disorder Html: Friedreich ataxia, 229300 (3); Friedreich ataxia with retained

mRNA and Protein(s)

mRNA Protein Name
NM_000144.4 NP_000135.2 frataxin, mitochondrial isoform 1 preproprotein
NM_001161706.1 NP_001155178.1 frataxin, mitochondrial isoform 3 preproprotein
NM_181425.2 NP_852090.1 frataxin, mitochondrial isoform 2 preproprotein



Bos taurus (cattle) FXN NP_001074196.1
Gallus gallus (chicken) FXN XP_424827.3
Homo sapiens (human) FXN NP_000135.2
Pan troglodytes (chimpanzee) FXN XP_001137864.2
Danio rerio (zebrafish) fxn NP_001076485.1
Arabidopsis thaliana (thale cress) FH NP_192233.2
Xenopus tropicalis (tropical clawed frog) LOC100497789 XP_004910856.1
Mus musculus (house mouse) Fxn NP_032070.1
Rattus norvegicus (Norway rat) Fxn NP_001178881.1
Macaca mulatta (rhesus monkey) FXN XP_001093449.1
Canis lupus familiaris (dog) FXN NP_001103428.1
Oryza sativa (rice) Os01g0783600 NP_001044455.2


Related articles in PubMed

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T, Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Trigg SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K, Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE, Iakoucheva LM, Xia Y, Vidal M
Cell164(4)805-17(2016 Feb)

Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.
Kumari D, Hayward B, Nakamura AJ, Bonner WM, Usdin K
Mutation research78114-21(2015 Nov)

A new cellular model to follow Friedreich's ataxia development in a time-resolved way.
Vannocci T, Faggianelli N, Zaccagnino S, della Rosa I, Adinolfi S, Pastore A
Disease models & mechanisms8(7)711-9(2015 Jul)

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.
Chutake YK, Costello WN, Lam CC, Parikh AC, Hughes TT, Michalopulos MG, Pook MA, Bidichandani SI
PloS one10(9)e0138437(2015)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The NFS1/ISD11 complex further interacts with scaffold protein ISCU and regulator protein frataxin, thereby forming a quaternary complex for Fe-S cluster formation.
Title: The N-Terminus of Iron-Sulfur Cluster Assembly Factor ISD11 Is Crucial for Subcellular Targeting and Interaction with l-Cysteine Desulfurase NFS1.

Molecular dynamics flexible fitting of protein structures docked into the EM map of the model revealed a [FXN(42-210)]24.[NFS1]24.[ISD11]24.[ISCU]24 complex, consistent with the measured 1:1:1:1 stoichiometry of its four components.
Title: Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery.

By interphase, FISH we found that in comparison to the normal Frataxin sequence the replication of expanded alleles is slowed or delayed. According to molecular combing, origins never fired within the normal Frataxin allele.
Title: The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion.

The differentially expressed FXN regulates the development of congenital heart disease (CHD) and the differential expression was under the control of miRNA-145. These results might provide new insight into the understanding of CHD pathogenesis and may facilitate further therapeutic studies.
Title: MiRNA-145 Regulates the Development of Congenital Heart Disease Through Targeting FXN.

Results presented here shed light on the folding mechanism of frataxin, opening the possibility of mutating it to generate hyperstable variants without altering their folding kinetics.
Title: Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region.

The following FXN gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the FXN cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

Online Only Promotion

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu22988 NM_000144.4
Latest version!
Homo sapiens frataxin (FXN), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$49.50-$69.30
$99.00
OHu22634 NM_181425.2
Latest version!
Homo sapiens frataxin (FXN), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00
OHu22696 NM_001161706.1
Latest version!
Homo sapiens frataxin (FXN), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00

ORF Online Only Promotion

Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
5 or more Clone 50% OFF
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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu22988
Clone ID Related Accession (Same CDS sequence) NM_000144.4
Accession Version NM_000144.4 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 633bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-07-09
Organism Homo sapiens(Human)
Product frataxin, mitochondrial isoform 1 preproprotein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL162730.26, U43747.1 and BC023633.2. This sequence is a reference standard in the RefSeqGene project. On Jun 11, 2009 this sequence version replaced NM_000144.3. Transcript Variant: This variant (1) encodes the longer isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC023633.2, AF161353.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGTGGACCTA AGCGTTATGA CTGGACTGGG AAAAACTGGG TGTACTCCCA CGACGGCGTG
TCCCTCCATG AGCTGCTGGC CGCAGAGCTC ACTAAAGCCT TAAAAACCAA ACTGGACTTG
TCTTCCTTGG CCTATTCCGG AAAAGATGCT TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_000135.2
CDS221..853
Misc Feature(1)113..115
Misc Feature(2)order(494..496,518..523,530..532,542..544,551..556,584..586,590..592)
Misc Feature(3)500..796
Exon (1)1..385
Exon (2)386..483
Exon (3)484..604
Exon (4)605..702
Exon (5)703..7168
Translation

Target ORF information:

RefSeq Version NM_000144.4
Organism Homo sapiens(Human)
Definition Homo sapiens frataxin (FXN), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000144.4

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGTGGACCTA AGCGTTATGA CTGGACTGGG AAAAACTGGG TGTACTCCCA CGACGGCGTG
TCCCTCCATG AGCTGCTGGC CGCAGAGCTC ACTAAAGCCT TAAAAACCAA ACTGGACTTG
TCTTCCTTGG CCTATTCCGG AAAAGATGCT TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu22634
Clone ID Related Accession (Same CDS sequence) NM_181425.2
Accession Version NM_181425.2 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 591bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-07-09
Organism Homo sapiens(Human)
Product frataxin, mitochondrial isoform 2 preproprotein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL162730.26, BF058880.1, BC023633.2 and AA232366.1. On Jun 11, 2009 this sequence version replaced NM_181425.1. Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BU552829.1, BF058880.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTATGTAG TGGACCTAAG CGTTATGACT GGACTGGGAA AAACTGGGTG TACTCCCACG
ACGGCGTGTC CCTCCATGAG CTGCTGGCCG CAGAGCTCAC TAAAGCCTTA A

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_852090.1
CDS221..811
Misc Feature(1)113..115
Misc Feature(2)order(494..496,518..523,530..532,542..544,551..556,584..586,590..592)
Misc Feature(3)500..>706
Exon (1)1..385
Exon (2)386..483
Exon (3)484..604
Exon (4)605..710
Exon (5)711..7176
Translation

Target ORF information:

RefSeq Version NM_181425.2
Organism Homo sapiens(Human)
Definition Homo sapiens frataxin (FXN), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_181425.2

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTATGTAG TGGACCTAAG CGTTATGACT GGACTGGGAA AAACTGGGTG TACTCCCACG
ACGGCGTGTC CCTCCATGAG CTGCTGGCCG CAGAGCTCAC TAAAGCCTTA A

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu22696
Clone ID Related Accession (Same CDS sequence) NM_001161706.1
Accession Version NM_001161706.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 516bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-07-09
Organism Homo sapiens(Human)
Product frataxin, mitochondrial isoform 3 preproprotein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL162730.26. Transcript Variant: Transcript Variant: This variant (3) uses an alternate exon in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTTAACGT GGCTCCTGTG GCTGTTCCAT CCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001155178.1
CDS221..736
Misc Feature(1)113..115
Misc Feature(2)order(494..496,518..523,530..532,542..544,551..556,584..586,590..592)
Misc Feature(3)500..>697
Exon (1)1..385
Exon (2)386..483
Exon (3)484..604
Exon (4)605..702
Exon (5)703..980
Translation

Target ORF information:

RefSeq Version NM_001161706.1
Organism Homo sapiens(Human)
Definition Homo sapiens frataxin (FXN), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001161706.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTTAACGT GGCTCCTGTG GCTGTTCCAT CCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Cell164(4)805-17(2016 Feb)
Yang X,Coulombe-Huntington J,Kang S,Sheynkman GM,Hao T,Richardson A,Sun S,Yang F,Shen YA,Murray RR,Spirohn K,Begg BE,Duran-Frigola M,MacWilliams A,Pevzner SJ,Zhong Q,Trigg SA,Tam S,Ghamsari L,Sahni N,Yi S,Rodriguez MD,Balcha D,Tan G,Costanzo M,Andrews B,Boone C,Zhou XJ,Salehi-Ashtiani K,Charloteaux B,Chen AA,Calderwood MA,Aloy P,Roth FP,Hill DE,Iakoucheva LM,Xia Y,Vidal M


book

Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.
Mutation research78114-21(2015 Nov)
Kumari D,Hayward B,Nakamura AJ,Bonner WM,Usdin K


book

A new cellular model to follow Friedreich's ataxia development in a time-resolved way.
Disease models & mechanisms8(7)711-9(2015 Jul)
Vannocci T,Faggianelli N,Zaccagnino S,della Rosa I,Adinolfi S,Pastore A


book

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.
PloS one10(9)e0138437(2015)
Chutake YK,Costello WN,Lam CC,Parikh AC,Hughes TT,Michalopulos MG,Pook MA,Bidichandani SI


 
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