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...

Full description

Saved in:
Bibliographic Details
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.
Format: Artigo
Language:Inglês
Published: Springer-Verlag 2011
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items