OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

Autor: Varga, R, Avenarius, MR, Kelley, PM, Keats, BJ, Berlin, CI, Hood, LJ, Morlet, TG, Brashears, SM, Starr, A, Cohn, ES, Smith, RJH, Kimberling, WJ

Publikováno v: Varga, R; Avenarius, MR; Kelley, PM; Keats, BJ; Berlin, CI; Hood, LJ; et al.(2006). OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. Journal of Medical Genetics, 43(7), 576-581. doi: 10.1136/jmg.2005.038612. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/4m09d687

Introduction: The majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::6087e5bee4224547e358f32758219e73
http://www.escholarship.org/uc/item/4m09d687

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INTEGRATION OF GENE MAPS - CHROMOSOME-1

Autor: Andrew Collins, Keats, Bj, Dracopoli, N., Shields, Dc, Morton, Ne

Publikováno v: ResearcherID

A composite map of 177 loci has been constructed in two steps. The first combined pairwise logarithm-of-odds scores on 127 loci into a comprehensive genetic map. Then this map was projected onto the physical map through cytogenetic assignments, and t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e20cdac9ab7466b6e1509deb08e2f2
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:A1992HU97700078&KeyUID=WOS:A1992HU97700078