Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)
- 2 June 2004
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 115 (2) , 149-156
- https://doi.org/10.1007/s00439-004-1137-3
Abstract
No abstract availableKeywords
This publication has 42 references indexed in Scilit:
- Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutationsNature Neuroscience, 2001
- From DFNB2 to Usher syndrome: Variable expressivity of the same diseaseAmerican Journal of Medical Genetics, 2001
- Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cellsCell Motility, 2000
- Enhanced genome annotation using structural profiles in the program 3D-PSSM 1 1Edited by J. ThorntonJournal of Molecular Biology, 2000
- Role of the salt-bridge between switch-1 and switch-2 of Dictyostelium myosin 1 1Edited by A. R. FershtJournal of Molecular Biology, 1999
- Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA geneNature Genetics, 1997
- The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA geneNature Genetics, 1997
- Mutations in the myosin VIIA gene cause non-syndromic recessive deafnessNature Genetics, 1997
- Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cellsHuman Molecular Genetics, 1996
- Defective myosin VIIA gene responsible for Usher syndrome type IBNature, 1995