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

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.

BMC medical genetics - 16 Dec 2019

Li Shan, Zhang Jianfei, Cao Yixuan, You Yi, Zhao Xiuli

Abstract excerpt

BACKGROUND: Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts. METHODS: Detailed family history and clinical data were collected, and ophthalmological examinations were performed using slit-lamp photography. Genomic DNA was extracted from peripheral...

Read the complete abstract on PubMed

Topics

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

Share to Cataract
Share to China
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Share to Pedigree

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 31842807
DOI: 10.1186/s12881-019-0933-5
PMCID: PMC6915918

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.PMID 31842807Read ↗

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

Identification of mutations associated with congenital cataracts in nineteen Chinese familiesSemantic proximity Read ↗

Mutational spectrum in a Chinese cohort with congenital cataracts.Semantic proximity Read ↗

Mutation profiles of congenital cataract genes in 21 northern Chinese families.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 HSF4 cause congenital cataracts in Chinese families.Semantic proximity Read ↗

Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.Semantic proximity Read ↗

Novel mutations associated with autosomal dominant congenital cataract are identified in Chinese familiesSemantic 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 ↗

Identification of 4 Novel Variants in 19 Families with Congenital CataractsSemantic proximity Read ↗

Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.Semantic proximity Read ↗

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencingSemantic proximity Read ↗

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