Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

Experimental Eye Research

Volumn 79, Issue 2, 2004, Pages 167-173

  Seyedahmadi, Babak Jian ^a   Rivolta, Carlo ^a   Keene, Julia A ^a   Berson, Eliot L ^a   Dryja, Thaddeus P ^a,b  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

mutation; retinitis pigmentosa; USH2A gene; Usher syndrome

Indexed keywords

RHODOPSIN;

ALLELE; ARTICLE; CONTROLLED STUDY; DATA ANALYSIS; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HOMOZYGOTE; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PATHOGENICITY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; USHER SYNDROME;

EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC SCREENING; HEARING LOSS; HUMANS; MALE; MUTATION; PEDIGREE; RETINITIS PIGMENTOSA; SYNDROME;

EID: 4344578456     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exer.2004.03.005     Document Type: Article

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