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Volumn 72, Issue 5, 2001, Pages 503-509

Spectrum of mutations in USH2A in british patients with usher syndrome type II

(10) Leroy, Bart P a,b Aragon Martin, Jose� A a Webster, Andrew R a,b Payne, Annette M a Bhattacharya, Shomi S a Bessant, David A R b Willis, Catherine b Bird, Alan C b Weston, Michael D c Kimberling, William J c

a UNIVERSITY COLLEGE LONDON (United Kingdom)

b MOORFIELDS EYE HOSPITAL (United Kingdom)

c BOYS TOWN NATIONAL RESEARCH HOSPITAL (United States)

Author keywords

British population; Hearing loss; Mutations; Retinitis pigmentosa; Usher syndrome; Usherin

Indexed keywords

EPIDERMAL GROWTH FACTOR; FIBRONECTIN; GENE PRODUCT; LAMININ; PROTEIN USH2A; PROTEIN USHERIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; EXON; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC SCREENING; HETERODUPLEX ANALYSIS; HUMAN; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN MOTIF; RETINITIS PIGMENTOSA; RETINOPATHY; RNA TRANSLATION; SEQUENCE HOMOLOGY; USHER SYNDROME; CHROMOSOME DELETION; FEMALE; GENETIC LINKAGE; GENETICS; MALE; MUTATION; PEDIGREE; RECESSIVE GENE; SYNDROME;

CHROMOSOME DELETION; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HETERODUPLEX ANALYSIS; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0034740617 PISSN: 00144835 EISSN: None Source Type: Journal
DOI: 10.1006/exer.2000.0978 Document Type: Article

Times cited : (43)

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