c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family

We studied a family presenting 10 individuals affected by autosomal dominant deafness in all frequencies and three individuals affected by high frequency hearing loss. Genomic scanning using the 50k Affymetrix microarray technology yielded a Lod Score of 2.1 in chromosome 14 and a Lod Score of 1.9 i...

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Publicat a:Genet Mol Biol
Autors principals: Dantas, Vitor G.L., Lezirovitz, Karina, Yamamoto, Guilherme L., Moura de Souza, Carolina Fischinger, Ferreira, Simone Gomes, Mingroni-Netto, Regina C.
Format: Artigo
Idioma:Inglês
Publicat: Sociedade Brasileira de Genética 2014
Matèries:
Human and Medical Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4261959/
https://ncbi.nlm.nih.gov/pubmed/25505834
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572014005000025
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