Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy

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 op...

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Detalles Bibliográficos
Autores principales: Yin, Houfa, Jin, Chongfei, Fang, Xiaoyun, Miao, Qi, Zhao, Yingying, Chen, Zhiqing, Su, Zhaoan, Ye, Panpan, Wang, Yao, Yin, Jinfu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3989252/
https://www.ncbi.nlm.nih.gov/pubmed/24739949
http://dx.doi.org/10.1371/journal.pone.0094960

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3989252/
https://www.ncbi.nlm.nih.gov/pubmed/24739949
http://dx.doi.org/10.1371/journal.pone.0094960

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