Autosomal dominant retinitis pigmentosa in Norway: A 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F

Acta Ophthalmologica Scandinavica

Volumn 85, Issue 3, 2007, Pages 287-297

  Grøndahl, Jan ^a   Riise, Ruth ^a,d   Heiberg, Arvid ^a   Leren, Trond ^a   Christoffersen, Terje ^b   Bragadottir, Ragnheidur ^c  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^c ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^d NONE   (Norway)

Author keywords

Electroretinography; Expressivity; Genotype phenotype correlation; Retinal dystrophy subtypes; Rhodopsin mutations

Indexed keywords

ALANINE; GLYCINE; INOSINATE DEHYDROGENASE; INOSINATE DEHYDROGENASE 1; ISOLEUCINE; METHIONINE; PERIPHERIN; PHENYLALANINE; RHODOPSIN; UNCLASSIFIED DRUG; VALINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; DARK ADAPTATION; ELECTRORETINOGRAPHY; EYE EXAMINATION; EYE PHOTOGRAPHY; FAMILIAL DISEASE; FEMALE; FOLLOW UP; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NORWAY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROGNOSIS; RETINA DYSTROPHY; RETINITIS PIGMENTOSA;

ADOLESCENT; ADULT; AGED; DARK ADAPTATION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FOLLOW-UP STUDIES; FRAMESHIFT MUTATION; GENES, DOMINANT; HUMANS; IMP DEHYDROGENASE; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NORWAY; PEDIGREE; PHENOTYPE; PHOTOGRAPHY; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; RHODOPSIN; VISUAL FIELDS;

EID: 34248177918     PISSN: 13953907     EISSN: 16000420     Source Type: Journal    
DOI: 10.1111/j.1600-0420.2006.00820.x     Document Type: Article

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