Výsledky vyhledávání - "Erika M Renkes"

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

Autor: Luke T Hovey, Kevin T. Booth, Kathy L. Frees, Carla Nishimura, Mohsin Shahzad, Muhammad Usman Rashid, Amama Ghaffar, Richard J.H. Smith, Hela Azaiez, Erika M Renkes, Zubair M. Ahmed, Saima Riazuddin, Mureed Hussain

Publikováno v: Hum Genet

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 hear

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7cd2ea6a6b9ffd90065dbd98836f28d
https://doi.org/10.1007/s00439-020-02197-5

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

Autor: Carla Nishimura, Saima Riazuddin, Amama Ghaffar, Richard J.H. Smith, Muhammad Ather Rashid, Kevin T. Booth, Luke T Hovey, Erika M Renkes, Mureed Hussain, Zubair M. Ahmed, Kathy L. Frees, Mohsin Shahzad, Hela Azaiez

COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly deafness in mice and humans. Two forms of deafness are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b76b5b297bcfa08071a3c8003cdef84d

Zobrazit plný text záznamu

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