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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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer-Verlag 2011
Konular:
Article
Online Erişim: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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