Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

Human Molecular Genetics

Volumn 10, Issue 15, 2001, Pages 1555-1562

  McKie, Arthur B ^a   McHale, John C ^a   Keen, T Jeffrey ^a   Tarttelin, Emma E ^b   Goliath, Rene ^c   Van Lith Verhoeven, Janneke J C ^d   Greenberg, Jacquie ^c   Ramesar, Rajkumar S ^c   Hoyng, Carel B ^d   Cremers, Frans P M ^d   Mackey, David A ^e   Bhattacharya, Shomi S ^f   Bird, Alan C ^f   Markham, Alexander F ^a   Inglehearn, Chris F ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; MESSENGER RNA PRECURSOR; NUCLEAR PROTEIN; PRPC8 PROTEIN; UNCLASSIFIED DRUG;

ARABIDOPSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 17P; CODON; CONTROLLED STUDY; EXON; GENE CLUSTER; GENE FUNCTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC CONSERVATION; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INCIDENCE; MISSENSE MUTATION; MOLECULAR CLONING; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; RNA SPLICING; SOUTH AFRICA; SPECIES DIFFERENCE; TRYPANOSOMA; VISUAL FIELD DEFECT; X CHROMOSOME LINKAGE;

ARABIDOPSIS; TRYPANOSOMA;

EID: 0035878541     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.15.1555     Document Type: Article

References (36)

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