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Article

A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.

Indian journal of ophthalmology - 1 May 2016

Bu Juan, He Sijie, Wang Lejin, Li Jiankang, Liu Jing, Zhang Xiuqing

Abstract excerpt

BACKGROUND: Congenital cataract is a rare disorder characterized by crystallin denaturation, which becomes a major cause of childhood blindness. Although more than fifty pathogenic genes for congenital cataract have been reported, the genetic causes of many cataract patients remain unknown. In this study, the aim is to identify the genetic cause of a five-generation Chinese autosomal dominant congenital cataract...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27380975
DOI: 10.4103/0301-4738.185597
PMCID: PMC4966373

Genes

EPHA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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