A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia-Reference-Cited by-同舟云学术

A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia

Published:2009-10-09 Issue:1 Volume:127 Page:83-89
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Huertas-Vazquez Adriana,Plaisier Christopher L.,Geng Ruishuang,Haas Blake E.,Lee Jenny,Greevenbroek Marleen M.,van der Kallen Carla,de Bruin Tjerk W. A.,Taskinen Marja-Riitta,Alagramam Kumar N.,Pajukanta Päivi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-009-0749-z

Reference33 articles.

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3. Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER (2003) PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet 12(24):3215–3223

4. Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ (2001a) Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 10(16):1709–1718

5. Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Richard P, Woychik RP (2001b) The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet 27:99–102

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