Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Hearing Loss

COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (...

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Bibliografiska uppgifter
I publikationen:Hum Genet
Huvudupphovsmän: Booth, Kevin T, Ghaffar, Amama, Rashid, Muhammad, Hovey, Luke T, Hussain, Mureed, Frees, Kathy, Renkes, Erika M, Nishimura, Carla J, Shahzad, Mohsin, Smith, Richard J, Ahmed, Zubair, Azaiez, Hela, Riazuddin, Saima
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2020
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7572817/
https://ncbi.nlm.nih.gov/pubmed/32562050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-020-02197-5
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