Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 38, Issue 10, 1997, Pages 1972-1982

  Dryja, Thaddeus P ^a,b   Hahn, Lauri B ^a   Kajiwara, Kazuto ^a   Berson, Eliot L ^b  

^a Ocular Molecular Genetics Institute   (United States)

^b MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

Digenic; Peripherin RDS; Photoreceptor; Retinitis pigmentosa; ROM1

Indexed keywords

GENE PRODUCT; PERIPHERIN;

ALLELE; ARTICLE; CHROMOSOME 11Q; CHROMOSOME 6P; CONTROLLED STUDY; GENE MUTATION; GENE SEGREGATION; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RETINA CONE; RETINA ROD; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EYE PROTEINS; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY; RETINITIS PIGMENTOSA; ROD OUTER SEGMENTS;

EID: 0030931136     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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