Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti’s crystalline corneoretinal dystrophy

PURPOSE: To characterize the spectrum of CYP4V2 gene mutations in 92 unrelated Chinese probands with Bietti’s crystalline dystrophy (BCD) and to describe the molecular and clinical characteristics of four novel CYP4V2 mutations associated with BCD. METHODS: All study participants underwent a complet...

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Detalles Bibliográficos
Autores principales: Meng, Xiao Hong, Guo, Hong, Xu, Hai Wei, Li, Qi You, Jin, Xin, Bai, Yun, Li, Shi Ying, Yin, Zheng Qin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287718/
https://www.ncbi.nlm.nih.gov/pubmed/25593508

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287718/
https://www.ncbi.nlm.nih.gov/pubmed/25593508

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