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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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Библиографические подробности
Опубликовано в: :Sci Rep
Главные авторы: Jiang, Bo, chen, Yanhua, Xu, Baisheng, Hong, Nan, Liu, Rongrong, Qi, Ming, Shen, Liping
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2017
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5216388/
https://ncbi.nlm.nih.gov/pubmed/28059152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep40129
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