Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa-Reference-Cited by-同舟云学术

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

Published:2009-11 Issue:5 Volume:85 Page:581-592
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Davidson Alice E.,Millar Ian D.,Urquhart Jill E.,Burgess-Mullan Rosemary,Shweikh Yusrah,Parry Neil,O'Sullivan James,Maher Geoffrey J.,McKibbin Martin,Downes Susan M.,Lotery Andrew J.,Jacobson Samuel G.,Brown Peter D.,Black Graeme C.M.,Manson Forbes D.C.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference49 articles.

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3. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium;Marmorstein;Proc. Natl. Acad. Sci. USA,2000

4. Expression and localization of bestrophin during normal mouse development;Bakall;Invest. Ophthalmol. Vis. Sci.,2003

5. Structure-function analysis of the bestrophin family of anion channels;Tsunenari;J. Biol. Chem.,2003

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