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

Autor: Margit Schraders, Mariet W. Elting, Tim M. Strom, Hanka Venselaar, Susanne Granneman, Patrick L. M. Huygen, Cor W. R. J. Cremers, Jaap Oostrik, N.J.D. Weegerink, Henricus P. M. Kunst, Lies H. Hoefsloot, Ronald J.C. Admiraal, Ronald J.E. Pennings, Hannie Kremer

Publikováno v: Journal of the Association for Research in Otolaryngology, 12, 753-66
Journal of the Association for Research in Otolaryngology, 12(6), 753-766. Springer New York
JARO: Journal of the Association for Research in Otolaryngology
J. Assoc. Res. Otolaryngol. 12, 756-766 (2011)
Journal of the Association for Research in Otolaryngology, 12, 6, pp. 753-66
Weegerink, N J D, Schraders, M, Oostrik, J, Huygen, P L M, Strom, T M, Granneman, S, Pennings, R J E, Venselaar, H, Hoefsloot, L H, Elting, M W, Cremers, C W R J, Admiraal, R J C, Kremer, H & Kunst, H P M 2011, ' Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations ', Journal of the Association for Research in Otolaryngology, vol. 12, no. 6, pp. 753-766 . https://doi.org/10.1007/s10162-011-0282-3

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 heteroz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6facead5e8dfae3ebb839ae2802ebd37
https://hdl.handle.net/1871/34924