The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa

Molecular Vision

Volumn 13, Issue , 2007, Pages 1970-1975

  Gire, Anisa I ^a   Sullivan, Lori S ^a   Bowne, Sara J ^a   Birch, David G ^b   Hughbanks Wheaton, Dianna ^b   Heckenlively, John R ^c   Daiger, Stephen P ^a,d  

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

^b RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^c UNIVERSITY OF MICHIGAN   (United States)

^d UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CELL NUCLEUS RECEPTOR; DNA; GLYCINE; GUANOSINE TRIPHOSPHATASE; INOSINATE DEHYDROGENASE; MEMBRANE PROTEIN; PROTEIN NR2E3; RHODOPSIN; TRANSCRIPTION FACTOR OTX; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME ANALYSIS; COHORT ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

ADULT; ARGININE; CHILD; COHORT STUDIES; FEMALE; GENE FREQUENCY; GENES, DOMINANT; GLYCINE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RETINITIS PIGMENTOSA; TRANSCRIPTION FACTORS;

EID: 35548955491     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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