Characterization of a p.R76H mutation in Cx50 identified in a Chinese family with congenital nuclear cataract.

CONCLUSIONS: This study identified a novel cataract phenotype caused by the p.R76H mutation in Cx50, providing evidence of further phenotypic heterogeneity associated with this mutation. Functional analysis showed that the mutation affected the formation of gap junction channels and led to opacity in the lens. PMID: 30928190 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30928190?dopt=Abstract

Source: J Formos Med Assoc - March 26, 2019 Category: General Medicine Authors: Wang KJ, Da Wang J, Chen DD, Wang MY, Yun B, Zhu SQ Tags: J Formos Med Assoc Source Type: research