A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family

BACKGROUND: Congenital nystagmus (CN) is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Ch...

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Detalles Bibliográficos
Autores principales: Liu, Jing, Jia, Yanlei, Wang, Lejin, Bu, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5200982/
https://www.ncbi.nlm.nih.gov/pubmed/27958203
http://dx.doi.org/10.4103/0301-4738.195593

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5200982/
https://www.ncbi.nlm.nih.gov/pubmed/27958203
http://dx.doi.org/10.4103/0301-4738.195593

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