Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa
- 1 April 2000
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 66 (4) , 1199-1210
- https://doi.org/10.1086/302855
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Usher syndrome: Definition and estimate of prevalence from two high-risk populationsPublished by Elsevier ,2004
- Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5qJournal of Medical Genetics, 2000
- A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2European Journal of Human Genetics, 1999
- E210K mutation in the gene encoding the β3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosaBritish Journal of Dermatology, 1998
- A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21Human Molecular Genetics, 1997
- Macromolecular organization of basement membranesCurrent Opinion in Cell Biology, 1996
- Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10Human Molecular Genetics, 1996
- Clinical diagnosis of the Usher syndromesAmerican Journal of Medical Genetics, 1994
- A gene for usher syndrome type I (USH1A) maps to chromosome 14qGenomics, 1992
- Localization of Usher syndrome type II to chromosome 1qGenomics, 1990