Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31

Human Molecular Genetics

Volumn 11, Issue 25, 2002, Pages 3209-3219

  Deery, Evelyne C ^a   Vithana, Eranga N ^a   Newbold, Richard J ^a   Gallon, Victoria A ^a   Bhattacharya, Shomi S ^b   Warren, Martin J ^a   Hunt, David M ^b   Wilkie, Susan E ^b  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; PROTEIN PRPF 31; UNCLASSIFIED DRUG; EYE PROTEIN; PRPF31 PROTEIN, HUMAN; SACCHAROMYCES CEREVISIAE PROTEIN;

ACCURACY; ANIMAL CELL; AUTOSOMAL DOMINANT DISORDER; CELL NUCLEUS; CONTROLLED STUDY; DISEASE ACTIVITY; DNA TEMPLATE; FUNGUS GROWTH; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; IN VIVO STUDY; MAMMAL CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROCESSING; PROTEIN TRANSPORT; RETINA ROD; RETINITIS PIGMENTOSA; REVIEW; RNA SPLICING; SPLICEOSOME; TEMPERATURE DEPENDENCE; WESTERN BLOTTING; YEAST; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ANIMAL; ARTICLE; BIOSYNTHESIS; CELL LINE; CELL STRAIN COS1; CERCOPITHECUS; COMPARATIVE STUDY; GENETICS; MISSENSE MUTATION; MOLECULAR GENETICS; SACCHAROMYCES CEREVISIAE; SITE DIRECTED MUTAGENESIS;

ANIMALIA; BOVINAE; FUNGI; MAMMALIA;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; EYE PROTEINS; GENETIC COMPLEMENTATION TEST; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; RETINITIS PIGMENTOSA; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; TRANSFECTION;

EID: 0036899110     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.25.3209     Document Type: Review

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