Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family.

Ophthalmic genetics - 1 Apr 2021

Yu Yinhui, Xu Jingjie, Qiao Yue, Li Jinyu, Yao Ke

Abstract excerpt

Background: The present study aims to identify the underlying genetic defects in a Chinese family with autosomal dominant congenital cataracts (ADCC).Methods: Detailed family histories and clinical data were recorded. Targeted exome sequencing of 54 known cataract-associated genes combined with high-throughput next-generation sequencing was conducted followed by Sanger sequencing and bioinformatic analysis to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to alpha-Crystallin B Chain

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Asian People

Share to Cataract

Share to Codon, Terminator

Share to Heterozygote

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 33272090
DOI: 10.1080/13816810.2020.1855665

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family.PMID 33272090Read ↗

Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.Semantic proximity Read ↗

A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family.Semantic proximity Read ↗

Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Semantic proximity Read ↗

Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.Semantic proximity Read ↗

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.Semantic proximity Read ↗

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.Semantic proximity Read ↗

A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.Semantic proximity Read ↗

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Semantic proximity Read ↗

Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.Semantic proximity Read ↗

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.Semantic proximity Read ↗

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.Semantic proximity Read ↗

Mutation analysis of two families with inherited congenital cataracts.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.