Výsledky vyhledávání - "12S rRNA A1555G mutation"

Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 (Connexin 26) Gene Are Not Modifiers of the Age at Onset or Severity of Hearing Loss in Spanish Patients with the 12S rRNA A1555G Mutation

Autor: Olga Bravo, Raquel Rabionet, E. Martinez, J. Girons, A. Borragan, M.L. Arbonés, M. Pellicer, Nuria Lopez-Bigas, Xavier Estivill

Publikováno v: The American Journal of Human Genetics. 66:1465-1467

To the Editor: Late-onset deafness is likely to be the result of complex interactions between genetic susceptibility factors and the environment. Although enormous progress is being achieved in the identification of genes that cause congenital deafne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d6f1b3543848d5ad7dfa59f90ce0356
https://doi.org/10.1086/302870

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Reply to López-Bigas et al

Autor: Arti Pandya, Walter E. Nance

Publikováno v: The American Journal of Human Genetics. 66(4)

To the Editor:This timely letter from Lopez-Bigas et al. dramatically illustrates the complexity of hearing loss associated with mitochondrial mutations. In a relatively large sample of 209 families with deafness, they identified 42 families with the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62bf033afea41eaf1a927f2ea10d58d5

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