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 CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.

Biochemical and biophysical research communications - 3 Jun 2011

Xiao Xueshan, Mai Guiying, Li Shiqiang, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

Bietti crystalline corneoretinal dystrophy (BCD, MIM 210370) is a common form of hereditary retinal degeneration in the Chinese population. BCD is caused by CYP4V2 mutations. Understanding the CYP4V2 mutational spectrum and associated phenotypes is of value for clinical practice. In this study, nine CYP4V2 mutations, including four novel ones (c.215-2A>G, c.761A>G, c.958C>T, and c.1169G>A), were detected in all...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
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 Fundus Oculi

Share to Homozygote

Share to Retinal Diseases

Source

Identifiers

PMID: 21565171
DOI: 10.1016/j.bbrc.2011.04.112

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 CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.PMID 21565171Read ↗

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

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

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

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

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

New Compound Heterozygous CYP4V2 Mutations in Bietti Crystalline Corneoretinal DystrophySemantic proximity Read ↗

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

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.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 ↗

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

A Novel Compound Heterozygous Mutation in the <i>CYP4V2</i> Gene in a Japanese Patient with Bietti’s Crystalline Corneoretinal DystrophySemantic proximity Read ↗

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