Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

Human Mutation

Volumn 8, Issue 4, 1996, Pages 297-303

  Keen, T Jeffrey ^a   Inglehearn, Chris F ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Human; Mouse; Peripherin; RDS; Retinal degeneration

Indexed keywords

PERIPHERIN;

AMINO ACID SEQUENCE; ANIMAL MODEL; ARTICLE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; MISSENSE MUTATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS;

ANIMALS; CONES (RETINA); EYE PROTEINS; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MACULAR DEGENERATION; MEMBRANE GLYCOPROTEINS; MICE; MICE, MUTANT STRAINS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, SECONDARY; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; ROD OUTER SEGMENTS; SEQUENCE DELETION;

ANIMALIA;

EID: 0029842023     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:4<297::AID-HUMU1>3.0.CO;2-5     Document Type: Article

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