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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2014
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| Materias: | |
| 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 |