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pro vyhledávání: '"Nal, Nevra"'
Mutational spectrum of MYO15A : the large N-terminal extension of myosin XVA is required for hearing
Autor:
Nal, Nevra, Ahmed, Zubair M., Erkal, Engin, Alper, Özgül M., Lüleci, Güven, Dinç, Oktay, Waryah, Ali Muhammad, Ain, Quratul, Tasneem, Saba, Husnain, Tayyab, Chattaraj, Parna, Riazuddin, Saima, Boger, Erich, Ghosh, Manju, Kabra, Madhulika, Riazuddin, Sheikh, Morell, Robert J., Friedman, Thomas B.
Human MYO15A is located on chromosome 17p11.2, has 66 exons and encodes unconventional myosin XVA. Recessive mutations of MYO15A are associated with profound, nonsyndromic hearing loss DFNB3 in humans, and deafness and circling behavior in shaker 2 m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2659::06959a3c0165e5026bc9a68b5afdbb89
https://zenodo.org/record/1229194
https://zenodo.org/record/1229194
Autor:
Manguoğlu, Esra, Sargın, Canan Figen, Nal, Nevra, Keser, Ibrahim, Küpesiz, Alphan, Yeşilipek, Akif, Lüleci, Güven
Publikováno v:
Pediatric Hematology & Oncology; Jun2005, Vol. 22 Issue 4, p291-295, 5p, 2 Charts
Autor:
Berker-Karaüzüm, Sıbel1, Manguoğlu, Ayşe1, Nal, Nevra1, Yakut, Sezın1, Sargin, Canan Fıgen1, Alper, Özgül1, Ündar, Levent2, Küpesız, Alphan3, Tezcan, Gülsün3, Hazar, Volkan3, Yeşılıpek, Akıf3, Lülecı, Güven1
Publikováno v:
Turkish Journal of Cancer. Jul2005, Vol. 35 Issue 3, p113-118. 6p.
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.
Autor:
Nal N; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville 20850, Maryland, USA., Ahmed ZM, Erkal E, Alper OM, Lüleci G, Dinç O, Waryah AM, Ain Q, Tasneem S, Husnain T, Chattaraj P, Riazuddin S, Boger E, Ghosh M, Kabra M, Riazuddin S, Morell RJ, Friedman TB
Publikováno v:
Human mutation [Hum Mutat] 2007 Oct; Vol. 28 (10), pp. 1014-9.
Autor:
Manguoğlu E; Akdeniz University, Faculty of Medicine, Department of Medical Biology and Genetics, 07070 Antalya, Turkey., Sargin CF, Nal N, Keser I, Küpesiz A, Yeşilipek A, Lüleci G
Publikováno v:
Pediatric hematology and oncology [Pediatr Hematol Oncol] 2005 Jun; Vol. 22 (4), pp. 291-5.