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 novel locus of coralliform cataract mapped to chromosome 2p24-pter.

Journal of human genetics - 1 Jan 2005

Gao Linghan, Qin Wei, Cui Hao, Feng Guoyin, Liu Ping, Gao Weiqi, Ma Lin, Li Pu, He Lin, Fu Songbin

Abstract excerpt

Congenital cataract is a common major abnormality of the eye, which can result in significant visual impairment or blindness in childhood. In this work, we studied four generations of a Chinese family that exhibited autosomal dominant coralliform cataract but no other ocular or systemic abnormalities. Members of the family were firstly genotyped with microsatellite markers at loci associated with congenital...

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 Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 2

Share to Genes, Dominant

Share to Genetic Markers

Share to Lod Score

Share to Microsatellite Repeats

Source

Identifiers

PMID: 15933805
DOI: 10.1007/s10038-005-0251-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel locus of coralliform cataract mapped to chromosome 2p24-pter.PMID 15933805Read ↗

[Localization and screening of autosomal dominant coralliform cataract associated gene].Semantic proximity Read ↗

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.Semantic proximity Read ↗

Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD geneSemantic proximity Read ↗

Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.Semantic proximity Read ↗

[Gene mapping and analysis of candidate genes in a Chinese family with autosomal dominant congenital coralliform cataract].Semantic proximity Read ↗

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.Semantic proximity Read ↗

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.Semantic proximity Read ↗

Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family.Semantic proximity Read ↗

Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.Semantic proximity Read ↗

A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.Semantic proximity Read ↗

Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.Semantic proximity Read ↗

Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.Semantic proximity Read ↗

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