Загрузка...

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...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Yokoi, Yumiko, Sato, Kota, Aoyagi, Hajime, Takahashi, Yoshihisa, Yamagami, Minako, Nakazawa, Mitsuru
Формат: Artigo
Язык:Inglês
Опубликовано: S. Karger AG 2011
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214674/
https://ncbi.nlm.nih.gov/pubmed/22087103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000331885
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!