Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing

Congenital cataract is both clinically diverse and genetically heterogeneous. To investigate the underlying genetic defect in three-generations of a Chinese family with autosomal dominant congenital cataracts, we recruited family members who underwent comprehensive ophthalmic examinations. A heteroz...

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Detalles Bibliográficos
Autores principales: Jiang, Bo, chen, Yanhua, Xu, Baisheng, Hong, Nan, Liu, Rongrong, Qi, Ming, Shen, Liping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216388/
https://www.ncbi.nlm.nih.gov/pubmed/28059152
http://dx.doi.org/10.1038/srep40129

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