期刊
PHYSIOLOGY
卷 27, 期 1, 页码 25-42出版社
AMER PHYSIOLOGICAL SOC
DOI: 10.1152/physiol.00037.2011
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资金
- Research Grants Council of Hong Kong [HKUST663808, 664009, 660709, 663610, HKUST6/CRF/10, SEG_HKUST06, AoE/B-15/01-II]
Usher syndrome 1 (USH1) is the most common and severe form of hereditary loss of hearing and vision. Genetic, physiological, and cell biological studies, together with recent structural investigations, have not only uncovered the physiological functions of the five USH1 proteins but also provided mechanistic explanations for the hearing and visual deficiencies in humans caused by USH1 mutations. This review focuses on the structural basis of the USH1 protein complex organization.
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