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 Compound Heterozygous Mutation in the <i>CYP4V2</i> Gene in a Japanese Patient with Bietti’s Crystalline Corneoretinal Dystrophy

1 Jan 2011

Abstract excerpt

PURPOSE: To describe the clinical and genetic characteristics of a Japanese family in which one member exhibited Bietti's crystalline corneoretinal dystrophy (BCD). METHODS: Using direct sequencing, mutation screening was performed in the CYP4V2 gene of both the patient with BCD and her daughter. Ophthalmic examinations were performed to determine the clinical features of both subjects. RESULTS: The 64-year-old...

Read the complete abstract on PubMed

Topics

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

Share to Glaucoma and retinal disorders
Share to Retinal Development and Disorders
Share to Retinopathy of Prematurity Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 22087103
DOI: 10.1159/000331885

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Compound Heterozygous Mutation in the <i>CYP4V2</i> Gene in a Japanese Patient with Bietti’s Crystalline Corneoretinal DystrophyPMID 22087103Read ↗

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

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

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

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

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

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

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

Genotype and Ocular Phenotype in Sixteen Chinese Patients with Bietti Corneoretinal Crystalline Dystrophy.Semantic proximity Read ↗

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