Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees

BACKGROUND: Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy presenting remarkable genetic heterogeneity. Genetic annotations would help with better clinical assessments and benefit gene therapy, and therefore should be recommended for RP patients. This report reveals...

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Detalles Bibliográficos
Autores principales: Chen, Xue, Sheng, Xunlun, Liu, Yani, Li, Zili, Sun, Xiantao, Jiang, Chao, Qi, Rui, Yuan, Shiqin, Wang, Xuhui, Zhou, Ge, Zhen, Yanyan, Xie, Ping, Liu, Qinghuai, Yan, Biao, Zhao, Chen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975579/
https://www.ncbi.nlm.nih.gov/pubmed/29843741
http://dx.doi.org/10.1186/s12967-018-1522-7

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