Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

In the present study, genotype–phenotype correlations in eight Dutch DFNB8/10 families with compound heterozygous mutations in TMPRSS3 were addressed. We compared the phenotypes of the families by focusing on the mutation data. The compound heterozygous variants in the TMPRSS3 gene in the present fa...

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Main Authors: Weegerink, Nicole J. D., Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L. M., Strom, Tim M., Granneman, Susanne, Pennings, Ronald J. E., Venselaar, Hanka, Hoefsloot, Lies H., Elting, Mariet, Cremers, Cor W. R. J., Admiraal, Ronald J. C., Kremer, Hannie, Kunst, Henricus P. M.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214237/
https://ncbi.nlm.nih.gov/pubmed/21786053
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10162-011-0282-3
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