Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments

European Journal of Human Genetics

Volumn 12, Issue 5, 2004, Pages 407-410

  Aller, Elena ^a,b   Nájera, Carmen ^a   Millán, José Ma ^b   Oltra, Juan S ^b   Pérez Garrigues, Herminio ^b   Vilela, Concepción ^b   Navea, Amparo ^b   Beneyto, Magdalena ^b  

^a UNIVERSITY OF VALENCIA   (Spain)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

2299delG mutation; Auditory impairment; C759F mutation; USH2A gene; Visual impairment

Indexed keywords

CYSTEINE; GLYCINE; PHENYLALANINE; PROTEIN USHERIN; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; DATA ANALYSIS; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RETINA DISEASE; SPAIN; USHER SYNDROME; VISUAL IMPAIRMENT;

ALLELES; DNA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; GENE FREQUENCY; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; SEQUENCE DELETION; SPAIN;

EID: 2442656582     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201138     Document Type: Article

References (9)

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