A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein
Published inHuman genetics, vol. 117, no. 6, p. 528-535
Collection
- Open Access - Licence nationale Springer
Publication date2005
Abstract
Keywords
- Amino Acid Sequence
- Chromosomes, Human, Pair 21
- Deafness/ genetics
- Female
- Haplotypes
- Humans
- Linkage (Genetics)
- Lod Score
- Male
- Membrane Proteins/ genetics/metabolism
- Molecular Sequence Data
- Mutation, Missense
- Neoplasm Proteins/ genetics/metabolism
- Pedigree
- Serine Endopeptidases/ genetics/metabolism
Affiliation
Citation (ISO format)
WATTENHOFER, Marie et al. A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. In: Human genetics, 2005, vol. 117, n° 6, p. 528–535. doi: 10.1007/s00439-005-1332-x
Main files (1)
Article (Published version)
Identifiers
- PID : unige:9094
- DOI : 10.1007/s00439-005-1332-x
- PMID : 16021470
ISSN of the journal0340-6717