A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti's Crystalline Corneoretinal Dystrophy

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 daughte...

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Detalles Bibliográficos
Autores principales: Yokoi, Yumiko, Sato, Kota, Aoyagi, Hajime, Takahashi, Yoshihisa, Yamagami, Minako, Nakazawa, Mitsuru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2011
Materias:
Published: September 2011
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214674/
https://www.ncbi.nlm.nih.gov/pubmed/22087103
http://dx.doi.org/10.1159/000331885

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214674/
https://www.ncbi.nlm.nih.gov/pubmed/22087103
http://dx.doi.org/10.1159/000331885

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