PMID: 11328726

Rozet JM, Perrault I, Gerber S, Hanein S, Barbet F, Ducroq D, Souied E, Munnich A, Kaplan J
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).
Invest Ophthalmol Vis Sci. 2001 May;42(6):1190-2., [PubMed]
Sentences
No. Mutations Sentence Comment
61 ABCC8 p.Phe565Ser
X
ABCC8 p.Phe565Ser 11328726:61:0
status: NEW
view ABCC8 p.Phe565Ser details
 F565S and R540C were not analyzed in this study. Login to comment