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...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Neural plasticity. - 1998. - 2018(2018) vom: 30., Seite 9425725
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| 1. Verfasser: |
Wu, Xia
(VerfasserIn) |
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| Weitere Verfasser: |
Wang, Shan,
Chen, Sen,
Wen, Ying-Ying,
Liu, Bo,
Xie, Wen,
Li, Dan,
Liu, Lin,
Huang, Xiang,
Sun, Yu,
Kong, Wei-Jia |
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| Format: | Online-Aufsatz
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| Sprache: | English |
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| Veröffentlicht: |
2018
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| Zugriff auf das übergeordnete Werk: | Neural plasticity
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| Schlagworte: | Journal Article
Research Support, Non-U.S. Gov't
Mutant Proteins
PTPRQ protein, human
EC 3.1.3.48
Receptor-Like Protein Tyrosine Phosphatases, Class 3 |
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