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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214237/
https://www.ncbi.nlm.nih.gov/pubmed/21786053
http://dx.doi.org/10.1007/s10162-011-0282-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214237/
https://www.ncbi.nlm.nih.gov/pubmed/21786053
http://dx.doi.org/10.1007/s10162-011-0282-3

Ejemplares similares