Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
Science
; 280(5370): 1753-7, 1998 Jun 12.
Article
en En
| MEDLINE
| ID: mdl-9624053
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Retinitis Pigmentosa
/
Proteínas de la Matriz Extracelular
/
Pérdida Auditiva Sensorineural
Tipo de estudio:
Prognostic_studies
Límite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Science
Año:
1998
Tipo del documento:
Article
País de afiliación:
Estados Unidos