Загрузка...

A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family

Purpose: Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous disease. Thus far, the disease gene has been identified as the FERM domain containing 7 (FRMD7) gene. The purpose of this study was to elucidate the clinical and genetic characteristics of a four- generation Chinese family...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Liu, Zhirong, Mao, Shanying, Pu, Jiali, Ding, Yao, Zhang, Baorong, Ding, Meiping
Формат: Artigo
Язык:Inglês
Опубликовано: Molecular Vision 2013
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3742126/
https://ncbi.nlm.nih.gov/pubmed/23946638
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!