Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Mutations in the transmembrane protease, serine 3 (TMPRSS3) gene, encoding a transmembrane serine protease, cause autosomal recessive deafness childhood (DFNB8) or congenital onset (DFNB10). TMPRSS3 mutations have been mainly identified in patients from Asian and Mediterranean countries and seem to...

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Autores principales: Elbracht, Miriam, Senderek, Jan, Eggermann, Thomas, Thürmer, Christian, Park, Jonas, Westhofen, Martin, Zerres, Klaus
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2007
Materias:
Online Mutation Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2752172/
https://ncbi.nlm.nih.gov/pubmed/17551081
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049122
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