A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease

PURPOSE: Norrie disease (ND), a rare X-linked recessive disorder, is characterized by congenital blindness and, occasionally, mental retardation and hearing loss. ND is caused by the Norrie Disease Protein gene (NDP), which codes for norrin, a cysteine-rich protein involved in ocular vascular develo...

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Detalles Bibliográficos
Autores principales: Liu, Deyuan, Hu, Zhengmao, Peng, Yu, Yu, Changhong, Liu, Yalan, Mo, Xiaoyun, Li, Xiaoping, Lu, Lina, Xu, Xiaojuan, Su, Wei, Pan, Qian, Xia, Kun
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002970/
https://www.ncbi.nlm.nih.gov/pubmed/21179243

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