• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu15961 Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $1699.00 25
OHu15961C Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. Customized vector On-demand $1699.00 25

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001178065.1, 296010810
Length 3267 bp
Structure linear
Update Date 13-APR-2014
Organism Homo sapiens (human)
Definition Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.
Product extracellular calcium-sensing receptor isoform 1 precursor
Comment

Summary: The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008].


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.

RefSeq NP_001171536.1
CDS 439..3705
Misc Feature(1)400..402
Misc Feature(2)496..2028
Misc Feature(3)order(634..636,940..945,1684..1686)
Misc Feature(4)643..1923
Misc Feature(5)order(751..753,760..762,901..903,1162..1164)
Misc Feature(6)2080..2241
Misc Feature(7)2305..2373
Misc Feature(8)2332..3048
Misc Feature(9)2416..2478
Misc Feature(10)<2512..3030
Misc Feature(11)2512..2568
Misc Feature(12)2641..2703
Misc Feature(13)2776..2844
Misc Feature(14)2884..2952
Misc Feature(15)2977..3054
Misc Feature(16)3106..3168
Exon (1)1..196
Gene:CASR
Gene Synonym:CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1
Exon (2)197..623
Gene:CASR
Gene Synonym:CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1
Exon (3)624..930
Gene:CASR
Gene Synonym:CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1
Exon (4)931..1815
Gene:CASR
Gene Synonym:CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1
Exon (5)1816..2046
Gene:CASR
Gene Synonym:CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1
Exon (6)2047..2200
Gene:CASR
Gene Synonym:CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1
Exon (7)2201..5011
Gene:CASR
Gene Synonym:CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1
Translation MAFYSCCWVLLALTWHTSAYGPDQRAQKKGDIILGGLFPIHFGVAAKDQDLKSRPESVEC IRYNFRGFRWLQAMIFAIEEINSSPALLPNLTLGYRIFDTCNTVSKALEATLSFVAQNKI DSLNLDEFCNCSEHIPSTIAVVGATGSGVSTAVANLLGLFYIPQVSYASSSRLLSNKNQF KSFLRTIPNDEHQATAMADIIEYFRWNWVGTIAADDDYGRPGIEKFREEAEERDICIDFS ELISQYSDEEEIQHVVEVIQNSTAKVIVVFSSGPDLEPLIKEIVRRNITGKIWLASEAWA SSSLIAMPQYFHVVGGTIGFALKAGQIPGFREFLKKVHPRKSVHNGFAKEFWEETFNCHL QEGAKGPLPVDTFLRGHEESGDRFSNSSTAFRPLCTGDENISSVETPYIDYTHLRISYNV YLAVYSIAHALQDIYTCLPGRGLFTNGSCADIKKVEAWQVLKHLRHLNFTNNMGEQVTFD ECGDLVGNYSIINWHLSPEDGSIVFKEVGYYNVYAKKGERLFINEEKILWSGFSREPLTF VLSVLQVPFSNCSRDCLAGTRKGIIEGEPTCCFECVECPDGEYSDETDASACNKCPDDFW SNENHTSCIAKEIEFLSWTEPFGIALTLFAVLGIFLTAFVLGVFIKFRNTPIVKATNREL SYLLLFSLLCCFSSSLFFIGEPQDWTCRLRQPAFGISFVLCISCILVKTNRVLLVFEAKI PTSFHRKWWGLNLQFLLVFLCTFMQIVICVIWLYTAPPSSYRNQELEDEIIFITCHEGSL MALGFLIGYTCLLAAICFFFAFKSRKLPENFNEAKFITFSMLIFFIVWISFIPAYASTYG KFVSAVEVIAILAASFGLLACIFFNKIYIILFKPSRNTIEEVRCSTAAHAFKVAARATLR RSNVSRKRSSSLGGSTGSTPSSSISSKSNSEDPFPQPERQKQQQPLALTQQEQQQQPLTL PQQQRSQQQPRCKQKVIFGSGTVTFSLSFDEPQKNAMAHRNSTHQNSLEAQKSSDTLTRH QPLLPLQCGETDLDLTVQETGLQGPVGGDQRPEVEDPEELSPALVVSSSQSFVISGGGST VTENVVNS
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
15+dbSNP:
15+c, gdbSNP:34250791
52+a, gdbSNP:12639581
86+a, gdbSNP:9883981
216+dbSNP:
216+c, tdbSNP:199649862
220+a, gdbSNP:200607266
285+a, tdbSNP:186365367
294+a, cdbSNP:141219519
302+c, tdbSNP:201074178
323+g, tdbSNP:202030066
325+a, gdbSNP:200168711
328+a, cdbSNP:201098532
340+a, gdbSNP:201965713
343+c, tdbSNP:200267002
352+a, gdbSNP:201074904
402+g, tdbSNP:202135908
407+c, gdbSNP:368421439
418+c, tdbSNP:200355690
425+g, tdbSNP:201439187
430+a, gdbSNP:199730938
444+a, cdbSNP:112042188
465+c, tdbSNP:141880581
470+c, tdbSNP:200673016
475+c, tdbSNP:201731619
476+c, tdbSNP:104893717
478+a, gdbSNP:199515839
486+c, tdbSNP:200520980
498+c, tdbSNP:201564143
511+c, tdbSNP:201633414
513+a, cdbSNP:199869938
516+c, gdbSNP:77852524
523+a, gdbSNP:397514729
534+c, tdbSNP:144604474
537+c, tdbSNP:387907398
544+a, gdbSNP:193922420
552+c, tdbSNP:61733590
553+c, gdbSNP:121909262
579+a, cdbSNP:104893702
603+a, gdbSNP:200018529
604+, gdbSNP:193922424
615+a, gdbSNP:200756928
623+g, tdbSNP:121909265
634+dbSNP:
634+c, tdbSNP:121909266
644+a, gdbSNP:193922432
707+a, cdbSNP:193922439
708+c, tdbSNP:201944670
709+c, tdbSNP:200375728
714+a, gdbSNP:201013419
715+c, tdbSNP:201153680
718+g, tdbSNP:104893709
726+a, gdbSNP:375151193
746+c, tdbSNP:199734455
747+c, gdbSNP:373057548
784+a, gdbSNP:104893691
792+a, cdbSNP:104893695
801+a, tdbSNP:201923228
812+c, tdbSNP:104893708
818+a, c, gdbSNP:121909260
820+c, tdbSNP:104893696
831+c, gdbSNP:121909267
851+c, tdbSNP:121909263
864+a, gdbSNP:201839033
866+a, gdbSNP:121909264
890+c, tdbSNP:104893694
891+g, tdbSNP:201849172
894+a, cdbSNP:201137966
934+dbSNP:
934+a, gdbSNP:193922441
939+c, tdbSNP:387907394
952+a, cdbSNP:201851934
975+a, gdbSNP:200129212
977+g, tdbSNP:121909268
984+a, tdbSNP:200545177
991+c, tdbSNP:104893707
992+a, gdbSNP:104893689
992+, gdbSNP:193922442
1009+a, gdbSNP:104893697
1011+a, gdbSNP:141631116
1067+a, gdbSNP:200004528
1081+c, gdbSNP:193922443
1087+a, gdbSNP:201091657
1100+a, c, tdbSNP:397514728
1113+a, gdbSNP:202226622
1118+a, g, tdbSNP:28936684
1143+a, cdbSNP:199887150
1150+a, gdbSNP:373376842
1156+a, gdbSNP:200878437
1177+c, tdbSNP:201840633
1178+c, tdbSNP:200382161
1186+a, gdbSNP:62269092
1190+a, gdbSNP:140418347
1194+c, tdbSNP:201948422
1195+a, cdbSNP:202179597
1200+c, tdbSNP:76438850
1217+a, gdbSNP:200386687
1226+c, tdbSNP:201456938
1227+a, gdbSNP:369124816
1239+c, tdbSNP:148721982
1263+c, tdbSNP:199836910
1267+a, gdbSNP:200554202
1278+c, tdbSNP:201366476
1284+a, c, gdbSNP:199729084
1286+c, tdbSNP:142745096
1292+a, gdbSNP:200039241
1305+a, gdbSNP:368612147
1320+a, gdbSNP:371941718
1323+c, tdbSNP:147307274
1327+a, gdbSNP:121909259
1344+c, tdbSNP:201067850
1347+c, gdbSNP:375005541
1351+a, gdbSNP:140920534
1353+a, cdbSNP:200528343
1358+c, tdbSNP:387907397
1368+c, tdbSNP:201737357
1375+a, gdbSNP:200838528
1412+a, gdbSNP:193922444
1449+c, gdbSNP:201820733
1461+g, tdbSNP:200196962
1464+c, tdbSNP:367730415
1496+a, cdbSNP:193922419
1507+a, tdbSNP:387907392
1529+a, cdbSNP:200771541
1548+a, gdbSNP:150412204
1570+a, gdbSNP:201338034
1578+a, tdbSNP:145869851
1581+c, tdbSNP:374835228
1582+a, gdbSNP:199980578
1587+c, gdbSNP:148573275
1601+c, tdbSNP:377282860
1602+a, gdbSNP:200898785
1606+a, gdbSNP:202228006
1626+a, gdbSNP:200312817
1630+a, gdbSNP:201177696
1631+a, gdbSNP:202101164
1647+c, tdbSNP:387907400
1674+g, tdbSNP:200443784
1682+a, gdbSNP:193922421
1723+c, tdbSNP:142818334
1726+a, g, tdbSNP:201520875
1735+c, gdbSNP:199511990
1758+g, tdbSNP:200243816
1765+c, tdbSNP:267599574
1771+a, gdbSNP:12493789
1778+a, gdbSNP:141315218
1815+a, gdbSNP:375297380
1827+dbSNP:
1827+a, cdbSNP:201572629
1832+a, gdbSNP:104893716
1833+a, gdbSNP:387907391
1848+a, cdbSNP:199886514
1850+a, tdbSNP:145042469
1873+c, tdbSNP:200878340
1875+c, tdbSNP:143360516
1894+g, tdbSNP:201829972
1899+g, tdbSNP:200183612
1901+a, gdbSNP:146739893
1907+c, tdbSNP:202112921
1916+a, gdbSNP:140347078
1917+c, tdbSNP:201076546
1929+c, tdbSNP:150337940
1938+a, tdbSNP:200240922
1945+a, gdbSNP:200910001
1948+a, gdbSNP:201536450
1950..1953+, gtttdbSNP:193922422
1963+a, gdbSNP:193922423
1967+a, gdbSNP:372504955
1991+a, gdbSNP:377233360
1992+a, gdbSNP:138099808
2011+a, gdbSNP:199688157
2012+a, gdbSNP:200470956
2014+a, gdbSNP:201568219
2050+dbSNP:
2050+c, tdbSNP:4678175
2073+c, tdbSNP:200534176
2090+a, gdbSNP:201202700
2097+c, tdbSNP:387907399
2099+a, gdbSNP:115230894
2106+c, tdbSNP:143047343
2110+g, tdbSNP:200647941
2125+a, gdbSNP:104893719
2133+c, tdbSNP:201955278
2136+a, gdbSNP:186279271
2144+a, cdbSNP:193922425
2153..2154+ct, gcdbSNP:193922427
2153+c, gdbSNP:193922426
2154+c, tdbSNP:193922428
2181+a, gdbSNP:200878919
2213+dbSNP:
2213+a, g, tdbSNP:104893690
2220+a, gdbSNP:138638329
2243+a, gdbSNP:117375173
2256+c, tdbSNP:142778221
2278+a, gdbSNP:104893712
2280+c, gdbSNP:147376568
2289+a, gdbSNP:139515396
2293+a, gdbSNP:199761731
2295+a, gdbSNP:200868156
2303+c, tdbSNP:104893698
2308+a, tdbSNP:201564925
2310+c, gdbSNP:199513106
2314+c, gdbSNP:104893703
2328+c, tdbSNP:141522130
2352+, cdbSNP:193922429
2381+a, gdbSNP:201852643
2391+c, tdbSNP:368093724
2402+a, cdbSNP:193922430
2404+a, gdbSNP:200113544
2410+c, tdbSNP:104893705
2440+a, cdbSNP:201609857
2452+c, tdbSNP:111733898
2477+a, gdbSNP:104893700
2480+a, tdbSNP:199957040
2482+a, cdbSNP:193922431
2499+c, tdbSNP:201223328
2502+c, tdbSNP:202119951
2511+g, tdbSNP:121909261
2523+a, cdbSNP:199925754
2532+c, tdbSNP:150869744
2543..2544+, gdbSNP:35337414
2572+a, gdbSNP:201828974
2584+, tdbSNP:35447346
2607+c, tdbSNP:200384325
2613+c, tdbSNP:201242061
2615+a, gdbSNP:201670662
2648+a, tdbSNP:104893718
2677+a, gdbSNP:200318708
2679+a, cdbSNP:371784919
2684+a, gdbSNP:375468610
2697+c, tdbSNP:372578790
2703+c, tdbSNP:201702964
2705+c, tdbSNP:139417576
2706+a, gdbSNP:149557554
2711+a, cdbSNP:193922433
2712+c, gdbSNP:2036400
2722+c, tdbSNP:193922434
2724+c, gdbSNP:77472303
2733+g, tdbSNP:201366240
2759+c, tdbSNP:145209598
2760+a, gdbSNP:199615189
2766+c, g, tdbSNP:200723499
2771+g, tdbSNP:201858689
2782+a, gdbSNP:199508583
2786+g, tdbSNP:104893699
2824+a, gdbSNP:371882068
2830+c, tdbSNP:104893711
2831+g, tdbSNP:104893701
2851+c, tdbSNP:121909258
2856+a, gdbSNP:200701164
2873+a, gdbSNP:140022350
2885+a, c, tdbSNP:104893693
2903+c, tdbSNP:193922435
2910+c, tdbSNP:200151175
2927+c, tdbSNP:104893710
2957+a, gdbSNP:193922436
2996+a, cdbSNP:104893706
3017+a, cdbSNP:373819680
3019+a, tdbSNP:200777304
3036+a, gdbSNP:200036671
3053+c, tdbSNP:201328344
3065+g, tdbSNP:387907401
3078+a, gdbSNP:143738711
3109+c, tdbSNP:104893704
3112+a, tdbSNP:193922437
3148+g, tdbSNP:200883282
3154+, cdbSNP:193922438
3161+a, gdbSNP:121909269
3163+c, tdbSNP:201919386
3185+c, tdbSNP:200357435
3194+c, gdbSNP:201067523
3198+a, cdbSNP:34200949
3223+a, gdbSNP:200448504
3235+c, gdbSNP:201517907
3237+a, gdbSNP:199508670
3245+a, gdbSNP:200263975
3270+a, gdbSNP:201771940
3271+a, cdbSNP:201449422
3272+c, tdbSNP:201950717
3292+a, gdbSNP:76327999
3292+c, tdbSNP:111155329
3312+a, gdbSNP:140586950
3319+a, cdbSNP:4987051
3338+a, gdbSNP:150979829
3369+a, cdbSNP:199594582
3378+c, tdbSNP:200686461
3383+c, tdbSNP:200620134
3387+a, cdbSNP:201569701
3388+a, tdbSNP:387907396
3412+c, tdbSNP:387907395
3423+c, tdbSNP:199884115
3424+a, cdbSNP:386545639
3424+g, tdbSNP:1801725
3432+c, gdbSNP:202014330
3436+a, gdbSNP:1042636
3438+a, gdbSNP:200174909
3453+c, gdbSNP:201341173
3455+a, cdbSNP:201957149
3459+c, tdbSNP:142305357
3462+a, gdbSNP:200260696
3464+a, cdbSNP:201052958
3481+a, g, tdbSNP:201990892
3488+a, tdbSNP:200238591
3498..3499+cg, gcdbSNP:386665242
3499+c, gdbSNP:1801726
3508+c, tdbSNP:202219108
3522+c, tdbSNP:371038712
3531+a, gdbSNP:193922440
3555+a, tdbSNP:200786703
3559+a, gdbSNP:142704083
3560+a, gdbSNP:201739901
3575+c, tdbSNP:387907393
3589+c, tdbSNP:193921082
3597+a, gdbSNP:374529579
3624+a, cdbSNP:199497544
3635+c, tdbSNP:200531901
3661+a, gdbSNP:185453682
3669+a, gdbSNP:146918302
3672+c, gdbSNP:373902031
3714+c, gdbSNP:201221238
3724+a, gdbSNP:199853217
3733+c, gdbSNP:202116649
3737+g, tdbSNP:200499408
3750+c, tdbSNP:201634638
3765+a, tdbSNP:4677948
3774+a, gdbSNP:200730858
3792+c, tdbSNP:202045621
3808+a, cdbSNP:199899073
3818+g, tdbSNP:201030000
3844+a, gdbSNP:202123327
3857+a, gdbSNP:368169412
3872+g, tdbSNP:200114793
3885..3886+, adbSNP:33974189
3885+a, tdbSNP:202131773
3892..3893+, adbSNP:386397785
3894+a, gdbSNP:201952452
3906+a, gdbSNP:200359766
3925+a, tdbSNP:142353133
3928+a, cdbSNP:201459709
3946+a, gdbSNP:201907748
3959+a, gdbSNP:200216741
3964+c, tdbSNP:146347436
3969+a, gdbSNP:199646422
3973+a, cdbSNP:200621890
3982+c, tdbSNP:201717089
3996+a, c, tdbSNP:199514215
4001+a, cdbSNP:187173588
4021+c, tdbSNP:201832919
4023+c, tdbSNP:200112425
4038+c, tdbSNP:200538849
4077+c, tdbSNP:201608931
4096+a, gdbSNP:34061605
4132+a, gdbSNP:201082201
4134+c, gdbSNP:202044306
4136+a, gdbSNP:199866237
4137+a, cdbSNP:201188463
4151+a, gdbSNP:201845207
4162+c, tdbSNP:144467156
4165+a, gdbSNP:200293915
4198+c, tdbSNP:201010317
4222+a, gdbSNP:201626418
4243+c, gdbSNP:200386820
4253+g, tdbSNP:201508202
4273+a, tdbSNP:199835779
4279+c, gdbSNP:6438718
4287+c, tdbSNP:201542911
4297+c, tdbSNP:146630958
4302+a, cdbSNP:35571604
4314+g, tdbSNP:200722205
4345+c, gdbSNP:201855028
4415+a, cdbSNP:199513538
4482+a, gdbSNP:200823248
4547+c, gdbSNP:201829627
4559+a, tdbSNP:200202581
4628+c, tdbSNP:201230484
4632+c, tdbSNP:201340348
4636+c, tdbSNP:199957639
4678+a, gdbSNP:200898964
4688+a, gdbSNP:201917195
4720+a, gdbSNP:9740
4737+a, gdbSNP:201184019
4757+c, tdbSNP:202097951
4758+a, gdbSNP:200469157
4781+a, cdbSNP:201509454
4788+a, gdbSNP:141112452
4798+c, tdbSNP:1802757
4811+c, tdbSNP:201445183
4819+a, gdbSNP:199831890
4874+c, tdbSNP:200652347
4890+a, gdbSNP:191799368
4903+c, tdbSNP:10190
4933+a, c, tdbSNP:200447586
4940+a, gdbSNP:34042920
4945+c, tdbSNP:199932958
4963+a, gdbSNP:369717314
4964+a, gdbSNP:200580268
4984+a, tdbSNP:201541426
Gene SymbolCASR
Gene SynonymCAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1
Chromosome3
Locus Map3q13
Title Intracellular Ca2+ oscillations generated via the Ca2+-sensing receptor are mediated by negative feedback by PKCalpha at Thr888 .
Author Young SH, Rey O, Sinnett-Smith J and Rozengurt E.
Journal Am. J. Physiol., Cell Physiol. 306 (3), C298-C306 (2014)
Title Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia .
Author Kinoshita Y, Hori M, Taguchi M, Watanabe S and Fukumoto S.
Journal J. Clin. Endocrinol. Metab. 99 (2), E363-E368 (2014)
Title The calcium-sensing receptor R990G polymorphism is associated with increased risk of hypertriglyceridemia in obese Chinese .
Author He YH, Kong WL, Wang G, Zhao Y, Bi MX, Na LX, Wang MQ, Perry B and Li Y.
Journal Gene 533 (1), 67-71 (2014)
Title Development of a calcium-sensing receptor molecular imaging agent .
Author Yusof AM, Kothandaraman S, Zhang X, Saji M, Ringel MD, Tweedle MF and Phay JE.
Journal Surgery 154 (6), 1378-1384 (2013)
Title [Gene polymorphism of the vitamin D receptor, vitamin D-binding protein and calcium-sensing receptor in respect of calcium-phosphate disturbances in chronic dialysis patients] .
Author Grzegorzewska AE and Ostromecki G.
Journal Prz. Lek. 70 (9), 735-738 (2013)
Title Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney .
Author Aida K, Koishi S, Tawata M and Onaya T.
Journal Biochem. Biophys. Res. Commun. 214 (2), 524-529 (1995)
Title Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene .
Author Aida K, Koishi S, Inoue M, Nakazato M, Tawata M and Onaya T.
Journal J. Clin. Endocrinol. Metab. 80 (9), 2594-2598 (1995)
Title Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs .
Author Garrett JE, Capuano IV, Hammerland LG, Hung BC, Brown EM, Hebert SC, Nemeth EF and Fuller F.
Journal J. Biol. Chem. 270 (21), 12919-12925 (1995)
Title Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia .
Author Chou YH, Pollak MR, Brandi ML, Toss G, Arnqvist H, Atkinson AB, Papapoulos SE, Marx S, Brown EM and Seidman JG.
Journal Am. J. Hum. Genet. 56 (5), 1075-1079 (1995)
Title Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation .
Author Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE and Seidman JG.
Journal Nat. Genet. 8 (3), 303-307 (1994)

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.