Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: Low prevalence and phenotypic variability

Clinical Genetics

Volumn 66, Issue 6, 2004, Pages 525-529

  Aller, E ^a,b   Jaijo, T ^a   Oltra, S ^a   Alio J ^c   Galan F ^c   Najera C ^b   Beneyto, M ^a   Millan J M ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b UNIVERSITY OF VALENCIA   (Spain)

^c MIGUEL HERNÁNDEZ UNIVERSITY   (Spain)

Author keywords

Progressive hearing loss; RP; USH3; Usher syndrome

Indexed keywords

MEMBRANE PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE COURSE; ETHNOLOGY; GENE MUTATION; GENETIC SCREENING; HEARING IMPAIRMENT; HEARING LOSS; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PREVALENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SPAIN; USHER SYNDROME;

ADOLESCENT; ADULT; CHILD; GENETIC SCREENING; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; RETINITIS PIGMENTOSA; SPAIN; SYNDROME; VESTIBULAR DISEASES;

EID: 9444292360     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00352.x     Document Type: Article

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