Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Human Mutation

Volumn 17, Issue 1, 2001, Pages 42-51

  Sohocki, Melanie M ^a   Daiger, Stephen P ^a,b   Bowne, Sara J ^a   Rodriquez, Joseph A ^b   Northrup, Hope ^b   Heckenlively, John R ^c   Birch, David G ^d   Mintz Hittner, Helen ^b   Ruiz, Richard S ^b   Lewis, Richard A ^e   Saperstein, David A ^f   Sullivan, Lori S ^a,b,g  

^a UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^b UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^c JULES STEIN EYE INSTITUTE   (United States)

^d RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^g NONE   (United States)

Author keywords

AIPL1; Cone rod dystrophy; CORD2; CRX; Inherited retinopathy; LCA4; Leber congenital amaurosis; Mutation analysis; Peripherin; RDS; Retinal disorder; Retinitis pigmentosa; RHO; Rhodopsin; RP4; RP7; RPI

Indexed keywords

GENE PRODUCT; HOMEODOMAIN PROTEIN; PERIPHERIN; PROTEIN AIPL1; PROTEIN CRX; PROTEIN RDS; PROTEIN RP1; RHODOPSIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MUTATION RATE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RETINOPATHY; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SUBSTITUTION; ANIMALS; ARGININE; CYSTEINE; GLUTAMINE; HOMEODOMAIN PROTEINS; HUMANS; INTERMEDIATE FILAMENT PROTEINS; LEUCINE; MEMBRANE GLYCOPROTEINS; MUTATION; NERVE TISSUE PROTEINS; OPTIC ATROPHIES, HEREDITARY; PREVALENCE; PROLINE; RETINAL DEGENERATION; RETINAL DISEASES; RETINITIS PIGMENTOSA; RHODOPSIN; TRANS-ACTIVATORS; TYROSINE; VARIATION (GENETICS);

EID: 0035162582     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K     Document Type: Article

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