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- Title
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
- Authors
Eudy, J D; Weston, M D; Yao, S; Hoover, D M; Rehm, H L; Ma-Edmonds, M; Yan, D; Ahmad, I; Cheng, J J; Ayuso, C; Cremers, C; Davenport, S; Moller, C; Talmadge, C B; Beisel, K W; Tamayo, M; Morton, C C; Swaroop, A; Kimberling, W J; Sumegi, J
- Abstract
Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.
- Publication
Science (New York, N.Y.), 1998, Vol 280, Issue 5370, p1753
- ISSN
0036-8075
- Publication type
Journal Article
- DOI
10.1126/science.280.5370.1753