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Article

Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.

PloS one - 1 Jan 2014

Yin Houfa, Jin Chongfei, Fang Xiaoyun, Miao Qi, Zhao Yingying, Chen Zhiqing, Su Zhaoan, Ye Panpan, Wang Yao, Yin Jinfu

Abstract excerpt

PURPOSE: To investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD). METHODS: Seventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examination and genetic study. The 11 exons of CYP4V2 were amplified from genomic DNA of all patients and...

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Share to Choroidal Neovascularization
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 Family Health

Share to Mutation, Missense

Share to Retinal Diseases

Share to Sequence Homology, Amino Acid

Source

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Identifiers

PMID: 24739949
DOI: 10.1371/journal.pone.0094960
PMCID: PMC3989252

Genes

TIMP3

Variants

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