×

SLC19A2 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol SLC19A2
Entrez Gene ID 10560
Full Name solute carrier family 19 member 2
Synonyms TC1,THMD1,THT1,THTR1,TRMA
General protein information
Preferred Names

solute carrier family 19 member 2

Names

thiamine transporter 1
high affinity thiamine transporter
reduced folate carrier protein (RFC) like
solute carrier family 19 (thiamine transporter), member 2
thTr-1

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

1

1q24.2

Summary This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016].
Disorder MIM:

603941

Disorder Html: Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_006996.2 NP_008927.1 thiamine transporter 1 isoform 1
NM_001319667.1 NP_001306596.1 thiamine transporter 1 isoform 2



Mus musculus (house mouse) Slc19a2 NP_473428.1
Homo sapiens (human) SLC19A2 NP_008927.1
Bos taurus (cattle) SLC19A2 NP_001192939.1
Rattus norvegicus (Norway rat) Slc19a2 NP_001025195.1
Anopheles gambiae (African malaria mosquito) AgaP_AGAP006349 XP_316371.4
Caenorhabditis elegans (roundworm) folt-1 NP_505833.3
Macaca mulatta (rhesus monkey) SLC19A2 XP_001093667.1
Danio rerio (zebrafish) slc19a2 XP_005168792.1
Pan troglodytes (chimpanzee) SLC19A2 XP_524958.2
Canis lupus familiaris (dog) SLC19A2 XP_850843.2
Gallus gallus (chicken) SLC19A2 XP_425529.2
Drosophila melanogaster (fruit fly) CG17036 NP_609584.1
Xenopus tropicalis (tropical clawed frog) LOC100489793 XP_002935829.1


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)

Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.
Mikstiene V, Songailiene J, Byckova J, Rutkauskiene G, Jasinskiene E, Verkauskiene R, Lesinskas E, Utkus A
American journal of medical genetics. Part A167(7)1605-9(2015 Jul)

Reduced folate carrier-1 G80a gene polymorphism is associated with neuroblastoma's development.
de Miranda DO, Barros JE, Vieira MM, Lima EL, Moraes VL, da Silva HA, Garcia HL, Lima CA, Gomes AV, Santos N, Muniz MT
Molecular biology reports41(8)5069-75(2014 Aug)

Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2.
Wood MC, Tsiouris JA, Velinov M
Psychiatry and clinical neurosciences68(6)487(2014 Jun)

Genetic implication of a novel thiamine transporter in human hypertension.
Zhang K, Huentelman MJ, Rao F, Sun EI, Corneveaux JJ, Schork AJ, Wei Z, Waalen J, Miramontes-Gonzalez JP, Hightower CM, Maihofer AX, Mahata M, Pastinen T, Ehret GB, , Schork NJ, Eskin E, Nievergelt CM, Saier MH Jr, O'Connor DT
Journal of the American College of Cardiology63(15)1542-55(2014 Apr)

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

A novel homozygous SLC19A2 gene mutation c.[205G>T], p.[(Val69Phe)] causing thiamine responsive megaloblastic anemia syndrome.
Title: Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.

The present study confirms the variability of the clinical manifestations caused by the same mutation within patients with TRMA syndrome.
Title: Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.

Individuals with genotype A80A for the SLC19A1 gene have a poor absorption of folate, altering the metabolism of folate and compromising the process of cell division promoting development of neuroblastoma.
Title: Reduced folate carrier-1 G80a gene polymorphism is associated with neuroblastoma's development.

the novel SLC19A2 mutation reported here may have contributed to the patient's psychotic manifestations by an unknown mechanism
Title: Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2.

Allelic expression imbalance confirmed that cis variation at the human SLC35F3 locus influenced expression of that gene, and the allelic expression imbalance peak coincided with the hypertension peak.
Title: Genetic implication of a novel thiamine transporter in human hypertension.

The following SLC19A2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the SLC19A2 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

Up to 50% OFF! Starting
from $49/clone

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu18269 NM_006996.2
Latest version!
Homo sapiens solute carrier family 19 member 2 (SLC19A2), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$209.50-$293.30
$419.00
OHu64119 NM_001319667.1
Latest version!
Homo sapiens solute carrier family 19 member 2 (SLC19A2), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector TBD $139.30
$199.00

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
All Other ORF Clones
30% OFF

*Business Day

** 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 OHu18269
Clone ID Related Accession (Same CDS sequence) NM_006996.2
Accession Version NM_006996.2 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1494bp)
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 2017-05-03
Organism Homo sapiens(Human)
Product thiamine transporter 1 isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF153330.1, AJ237724.1 and BU608154.1. This sequence is a reference standard in the RefSeqGene project. On Mar 22, 2008 this sequence version replaced NM_006996.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). 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 :: SRR1660805.2376.1, AF153330.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
ATGGATGTGC CCGGCCCGGT GTCTCGGCGG GCGGCGGCGG CGGCGGCCAC TGTGCTCCTG 
CGGACCGCTC GGGTCCGTCG CGAATGCTGG TTCTTGCCGA CCGCGCTGCT CTGCGCCTAC
GGCTTCTTCG CCAGCCTCAG GCCGTCCGAG CCCTTCCTGA CCCCGTACCT GCTGGGGCCG
GACAAGAACC TGACCGAGAG GGAGGTCTTC AATGAAATTT ATCCAGTATG GACTTACTCT
TACCTGGTGC TACTGTTTCC TGTGTTCCTT GCCACAGACT ACCTCCGTTA TAAACCTGTT
GTTCTACTGC AGGGGCTCAG CCTTATTGTT ACATGGTTTA TGCTGCTCTA TGCCCAGGGA
CTGCTGGCCA TTCAATTTCT AGAATTTTTT TATGGCATCG CCACAGCCAC TGAAATTGCC
TATTACTCTT ATATCTACAG TGTGGTGGAC CTGGGCATGT ACCAGAAAGT CACAAGTTAC
TGTCGAAGTG CCACTTTGGT GGGCTTTACA GTGGGCTCTG TCCTAGGGCA AATCCTTGTC
TCAGTGGCAG GCTGGTCGCT GTTCAGCCTG AATGTCATCT CTCTTACCTG TGTTTCAGTG
GCTTTTGCTG TGGCCTGGTT TTTACCTATG CCACAGAAGA GCCTCTTCTT TCACCACATT
CCTTCTACCT GCCAGAGAGT GAATGGCATC AAGGTACAAA ATGGTGGCAT TGTTACTGAC
ACCCCAGCTT CTAACCACCT TCCTGGCTGG GAGGACATTG AGTCAAAAAT CCCTCTAAAT
ATGGAGGAGC CTCCCGTGGA GGAACCGGAA CCCAAGCCAG ACCGTCTCCT TGTATTGAAA
GTACTATGGA ATGATTTCCT GATGTGCTAC TCCTCTCGCC CTCTTCTCTG CTGGTCTGTG
TGGTGGGCCC TCTCTACCTG TGGCTATTTT CAAGTTGTGA ACTACACACA GGGCCTGTGG
GAGAAAGTGA TGCCTTCTCG CTATGCTGCT ATCTATAATG GTGGCGTGGA GGCCGTTTCA
ACCTTACTGG GTGCTGTTGC TGTGTTTGCA GTTGGTTATA TAAAAATATC CTGGTCAACT
TGGGGAGAAA TGACATTATC TCTCTTTTCT CTCCTGATTG CTGCTGCAGT GTATATCATG
GACACTGTGG GTAACATTTG GGTGTGCTAT GCATCCTATG TTGTCTTCAG AATCATCTAC
ATGTTACTCA TCACGATAGC AACTTTTCAA ATTGCTGCAA ACCTCAGCAT GGAACGCTAT
GCCCTAGTAT TTGGTGTAAA TACCTTCATT GCCCTGGCAC TGCAGACGCT GCTCACTCTA
ATTGTGGTAG ATGCCAGTGG CCTTGGATTA GAAATTACCA CTCAGTTTTT GATCTATGCC
AGTTATTTTG CACTCATCGC TGTGGTTTTC CTGGCCAGTG GTGCAGTCAG TGTTATGAAG
AAATGTAGAA AGCTGGAAGA TCCACAATCA AGTTCTCAAG TAACCACTTC ATAA

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

RefSeq NP_008927.1
CDS205..1698
Misc Feature(1)43..45
Misc Feature(2)205..207
Misc Feature(3)286..1578
Misc Feature(4)289..342
Misc Feature(5)421..477
Misc Feature(6)502..558
Misc Feature(7)589..651
Misc Feature(8)700..759
Misc Feature(9)778..828
Misc Feature(10)868..870
Misc Feature(11)1060..1134
Misc Feature(12)1216..1266
Misc Feature(13)1294..1344
Misc Feature(14)1363..1431
Misc Feature(15)1462..1533
Misc Feature(16)1570..1641
Exon (1)1..408
Exon (2)409..1011
Exon (3)1012..1234
Exon (4)1235..1427
Exon (5)1428..1569
Exon (6)1570..3638
Translation

Target ORF information:

RefSeq Version NM_006996.2
Organism Homo sapiens(Human)
Definition Homo sapiens solute carrier family 19 member 2 (SLC19A2), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_006996.2

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
ATGGATGTGC CCGGCCCGGT GTCTCGGCGG GCGGCGGCGG CGGCGGCCAC TGTGCTCCTG 
CGGACCGCTC GGGTCCGTCG CGAATGCTGG TTCTTGCCGA CCGCGCTGCT CTGCGCCTAC
GGCTTCTTCG CCAGCCTCAG GCCGTCCGAG CCCTTCCTGA CCCCGTACCT GCTGGGGCCG
GACAAGAACC TGACCGAGAG GGAGGTCTTC AATGAAATTT ATCCAGTATG GACTTACTCT
TACCTGGTGC TACTGTTTCC TGTGTTCCTT GCCACAGACT ACCTCCGTTA TAAACCTGTT
GTTCTACTGC AGGGGCTCAG CCTTATTGTT ACATGGTTTA TGCTGCTCTA TGCCCAGGGA
CTGCTGGCCA TTCAATTTCT AGAATTTTTT TATGGCATCG CCACAGCCAC TGAAATTGCC
TATTACTCTT ATATCTACAG TGTGGTGGAC CTGGGCATGT ACCAGAAAGT CACAAGTTAC
TGTCGAAGTG CCACTTTGGT GGGCTTTACA GTGGGCTCTG TCCTAGGGCA AATCCTTGTC
TCAGTGGCAG GCTGGTCGCT GTTCAGCCTG AATGTCATCT CTCTTACCTG TGTTTCAGTG
GCTTTTGCTG TGGCCTGGTT TTTACCTATG CCACAGAAGA GCCTCTTCTT TCACCACATT
CCTTCTACCT GCCAGAGAGT GAATGGCATC AAGGTACAAA ATGGTGGCAT TGTTACTGAC
ACCCCAGCTT CTAACCACCT TCCTGGCTGG GAGGACATTG AGTCAAAAAT CCCTCTAAAT
ATGGAGGAGC CTCCCGTGGA GGAACCGGAA CCCAAGCCAG ACCGTCTCCT TGTATTGAAA
GTACTATGGA ATGATTTCCT GATGTGCTAC TCCTCTCGCC CTCTTCTCTG CTGGTCTGTG
TGGTGGGCCC TCTCTACCTG TGGCTATTTT CAAGTTGTGA ACTACACACA GGGCCTGTGG
GAGAAAGTGA TGCCTTCTCG CTATGCTGCT ATCTATAATG GTGGCGTGGA GGCCGTTTCA
ACCTTACTGG GTGCTGTTGC TGTGTTTGCA GTTGGTTATA TAAAAATATC CTGGTCAACT
TGGGGAGAAA TGACATTATC TCTCTTTTCT CTCCTGATTG CTGCTGCAGT GTATATCATG
GACACTGTGG GTAACATTTG GGTGTGCTAT GCATCCTATG TTGTCTTCAG AATCATCTAC
ATGTTACTCA TCACGATAGC AACTTTTCAA ATTGCTGCAA ACCTCAGCAT GGAACGCTAT
GCCCTAGTAT TTGGTGTAAA TACCTTCATT GCCCTGGCAC TGCAGACGCT GCTCACTCTA
ATTGTGGTAG ATGCCAGTGG CCTTGGATTA GAAATTACCA CTCAGTTTTT GATCTATGCC
AGTTATTTTG CACTCATCGC TGTGGTTTTC CTGGCCAGTG GTGCAGTCAG TGTTATGAAG
AAATGTAGAA AGCTGGAAGA TCCACAATCA AGTTCTCAAG TAACCACTTC ATAA

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

CloneID OHu64119
Clone ID Related Accession (Same CDS sequence) NM_001319667.1
Accession Version NM_001319667.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 891bp)
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 2017-04-23
Organism Homo sapiens(Human)
Product thiamine transporter 1 isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB150382.1, AF135488.1 and BU608154.1. On Feb 4, 2016 this sequence version replaced XM_011509077.1. Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. 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 :: BC018514.1, KU178534.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGATGTGC CCGGCCCGGT GTCTCGGCGG GCGGCGGCGG CGGCGGCCAC TGTGCTCCTG 
CGGACCGCTC GGGTCCGTCG CGAATGCTGG TTCTTGCCGA CCGCGCTGCT CTGCGCCTAC
GGCTTCTTCG CCAGCCTCAG GCCGTCCGAG CCCTTCCTGA CCCCGTACCT GCTGGGGCCG
GACAAGAACC TGACCGAGAG GGAGGAACCC AAGCCAGACC GTCTCCTTGT ATTGAAAGTA
CTATGGAATG ATTTCCTGAT GTGCTACTCC TCTCGCCCTC TTCTCTGCTG GTCTGTGTGG
TGGGCCCTCT CTACCTGTGG CTATTTTCAA GTTGTGAACT ACACACAGGG CCTGTGGGAG
AAAGTGATGC CTTCTCGCTA TGCTGCTATC TATAATGGTG GCGTGGAGGC CGTTTCAACC
TTACTGGGTG CTGTTGCTGT GTTTGCAGTT GGTTATATAA AAATATCCTG GTCAACTTGG
GGAGAAATGA CATTATCTCT CTTTTCTCTC CTGATTGCTG CTGCAGTGTA TATCATGGAC
ACTGTGGGTA ACATTTGGGT GTGCTATGCA TCCTATGTTG TCTTCAGAAT CATCTACATG
TTACTCATCA CGATAGCAAC TTTTCAAATT GCTGCAAACC TCAGCATGGA ACGCTATGCC
CTAGTATTTG GTGTAAATAC CTTCATTGCC CTGGCACTGC AGACGCTGCT CACTCTAATT
GTGGTAGATG CCAGTGGCCT TGGATTAGAA ATTACCACTC AGTTTTTGAT CTATGCCAGT
TATTTTGCAC TCATCGCTGT GGTTTTCCTG GCCAGTGGTG CAGTCAGTGT TATGAAGAAA
TGTAGAAAGC TGGAAGATCC ACAATCAAGT TCTCAAGTAA CCACTTCATA A

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

RefSeq NP_001306596.1
CDS205..1095
Misc Feature(1)43..45
Misc Feature(2)205..207
Misc Feature(3)289..342
Misc Feature(4)<349..975
Exon (1)1..408
Exon (2)409..631
Exon (3)632..824
Exon (4)825..966
Exon (5)967..3035
Translation

Target ORF information:

RefSeq Version NM_001319667.1
Organism Homo sapiens(Human)
Definition Homo sapiens solute carrier family 19 member 2 (SLC19A2), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001319667.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGATGTGC CCGGCCCGGT GTCTCGGCGG GCGGCGGCGG CGGCGGCCAC TGTGCTCCTG 
CGGACCGCTC GGGTCCGTCG CGAATGCTGG TTCTTGCCGA CCGCGCTGCT CTGCGCCTAC
GGCTTCTTCG CCAGCCTCAG GCCGTCCGAG CCCTTCCTGA CCCCGTACCT GCTGGGGCCG
GACAAGAACC TGACCGAGAG GGAGGAACCC AAGCCAGACC GTCTCCTTGT ATTGAAAGTA
CTATGGAATG ATTTCCTGAT GTGCTACTCC TCTCGCCCTC TTCTCTGCTG GTCTGTGTGG
TGGGCCCTCT CTACCTGTGG CTATTTTCAA GTTGTGAACT ACACACAGGG CCTGTGGGAG
AAAGTGATGC CTTCTCGCTA TGCTGCTATC TATAATGGTG GCGTGGAGGC CGTTTCAACC
TTACTGGGTG CTGTTGCTGT GTTTGCAGTT GGTTATATAA AAATATCCTG GTCAACTTGG
GGAGAAATGA CATTATCTCT CTTTTCTCTC CTGATTGCTG CTGCAGTGTA TATCATGGAC
ACTGTGGGTA ACATTTGGGT GTGCTATGCA TCCTATGTTG TCTTCAGAAT CATCTACATG
TTACTCATCA CGATAGCAAC TTTTCAAATT GCTGCAAACC TCAGCATGGA ACGCTATGCC
CTAGTATTTG GTGTAAATAC CTTCATTGCC CTGGCACTGC AGACGCTGCT CACTCTAATT
GTGGTAGATG CCAGTGGCCT TGGATTAGAA ATTACCACTC AGTTTTTGAT CTATGCCAGT
TATTTTGCAC TCATCGCTGT GGTTTTCCTG GCCAGTGGTG CAGTCAGTGT TATGAAGAAA
TGTAGAAAGC TGGAAGATCC ACAATCAAGT TCTCAAGTAA CCACTTCATA A

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

Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.
American journal of medical genetics. Part A167(7)1605-9(2015 Jul)
Mikstiene V,Songailiene J,Byckova J,Rutkauskiene G,Jasinskiene E,Verkauskiene R,Lesinskas E,Utkus A


book

Reduced folate carrier-1 G80a gene polymorphism is associated with neuroblastoma's development.
Molecular biology reports41(8)5069-75(2014 Aug)
de Miranda DO,Barros JE,Vieira MM,Lima EL,Moraes VL,da Silva HA,Garcia HL,Lima CA,Gomes AV,Santos N,Muniz MT


book

Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2.
Psychiatry and clinical neurosciences68(6)487(2014 Jun)
Wood MC,Tsiouris JA,Velinov M


book

Genetic implication of a novel thiamine transporter in human hypertension.
Journal of the American College of Cardiology63(15)1542-55(2014 Apr)
Zhang K,Huentelman MJ,Rao F,Sun EI,Corneveaux JJ,Schork AJ,Wei Z,Waalen J,Miramontes-Gonzalez JP,Hightower CM,Maihofer AX,Mahata M,Pastinen T,Ehret GB,,Schork NJ,Eskin E,Nievergelt CM,Saier MH Jr,O'Connor DT


 
*
*
*
*