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

Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.

Molecular vision - 1 Jan 2014

Meng Xiao Hong, Guo Hong, Xu Hai Wei, Li Qi You, Jin Xin, Bai Yun, Li Shi Ying, Yin Zheng Qin

Abstract excerpt

PURPOSE: To characterize the spectrum of CYP4V2 gene mutations in 92 unrelated Chinese probands with Bietti's crystalline dystrophy (BCD) and to describe the molecular and clinical characteristics of four novel CYP4V2 mutations associated with BCD. METHODS: All study participants underwent a complete ophthalmological examination. Mutational screening of CYP4V2 coding regions and flanking intron sequences was...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P-450 Enzyme System

Share to Cytochrome P450 Family 4

Share to INDEL Mutation

Share to Mutation, Missense

Share to Retinal Diseases

Share to Static Electricity

Source

Open in PubMed Open full text

Identifiers

PMID: 25593508
PMCID: PMC4287718

Genes

ERG

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.PMID 25593508Read ↗

Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations.Semantic proximity Read ↗

Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.Semantic proximity Read ↗

Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.Semantic proximity Read ↗

Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.Semantic proximity Read ↗

Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.Semantic proximity Read ↗

Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations.Semantic proximity Read ↗

Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.Semantic proximity Read ↗

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