Article
The novel mutation P36R in LRP5L contributes to congenital membranous cataract via inhibition of laminin γ1 and c-MAF.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Dec 2020
Sun Liyao, Song Fanqian, Liu Hanruo, Wang Chao, Tang Xianling, Li Zhijian, Ge Hongyan, Liu Ping
Abstract excerpt
PURPOSE: The present study investigated a pathogenic mutation and its mechanism on membranous cataract in a congenital membranous cataract family. METHODS: An autosomal dominant four-generation Chinese congenital membranous cataract family was recruited and whole-exome sequencing was performed to screen for sequence variants. Candidate variants were validated using polymerase chain reaction and Sanger sequencing....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.