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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Elbracht, Miriam, Senderek, Jan, Eggermann, Thomas, Thürmer, Christian, Park, Jonas, Westhofen, Martin, Zerres, Klaus
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2007
Aiheet:
Linkit: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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