A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

Nature Genetics

Volumn 13, Issue 1, 1996, Pages 35-42

  Meindl, A ^a   Dry, K ^b   Herrmann, K ^a   Manson, F ^b   Ciccodicola, A ^c   Edgar, A ^b   Carvalho, M R S ^a,h   Achatz, H ^a   Hellebrand, H ^a   Lennon, A ^b   Migliaccio, C ^c   Porter, K ^b   Zrenner, E ^d   Bird, A ^e   Jay, M ^e   Lorenz, B ^f   Wittwer, B ^g   D'Urso, M ^c   Meitinger, T ^a   Wright, A ^b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

^c INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^d UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^e MOORFIELDS EYE HOSPITAL   (United Kingdom)

^f UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^g UNIVERSITY OF MÜNSTER   (Germany)

^h Dep Biologia Geral   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; GENE DELETION; GENE LOCATION; HUMAN; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEQUENCE HOMOLOGY; X CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; CELL CYCLE PROTEINS; CHROMOSOME MAPPING; CLONING, MOLECULAR; CONSERVED SEQUENCE; DNA PRIMERS; DNA-BINDING PROTEINS; EYE PROTEINS; FEMALE; GENE EXPRESSION; GTP PHOSPHOHYDROLASES; GTP-BINDING PROTEINS; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEIN ISOPRENYLATION; REPETITIVE SEQUENCES, NUCLEIC ACID; RETINITIS PIGMENTOSA; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY, AMINO ACID; X CHROMOSOME; XENOPUS; XENOPUS PROTEINS;

EID: 15844378213     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0596-35     Document Type: Article

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