English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract. The objective of this report was to identify the disease gene in a family with congenital cataract of autosomal recessive inheritance. Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated controls. A single base insertion leading to frameshift at codon 203 of connexin 50 was found to co-segregate with disease in the family. These results confirm involvement of GJA8 in autosomal recessive cataract.

Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract