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Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family

PTPRQ gene, encoding protein tyrosine phosphatase receptor Q, is essential for the normal maturation and function of hair bundle in the cochlea. Its mutations can cause the defects of stereocilia in hair cell, which lead to nonsyndromic sensorineural hearing loss. Using next-generation sequencing an...

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Detalhes bibliográficos
Publicado no:Neural Plast
Main Authors: Wu, Xia, Wang, Shan, Chen, Sen, Wen, Ying-ying, Liu, Bo, Xie, Wen, Li, Dan, Liu, Lin, Huang, Xiang, Sun, Yu, Kong, Wei-jia
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5932988/
https://ncbi.nlm.nih.gov/pubmed/29849575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/9425725
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