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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...
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Main Authors: | , , , , , , |
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Format: | Artigo |
Language: | Inglês |
Published: |
BMJ Group
2007
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Subjects: | |
Online Access: | 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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