Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

European Journal of Human Genetics

Volumn 7, Issue 6, 1999, Pages 687-694

  Miano, M G ^a   Testa, F ^a   Strazzullo, M ^a   Trujillo, M ^a   De Bernardo, C ^a   Grammatico, B ^a   Simonelli, F ^a   Mangino, M ^a   Torrente, T ^a   Ruberto, G ^a   Beneyto, M ^a   Antinolo, G ^a   Rinaldi, E ^a   Danesino, C ^a   Ventruto, V ^a   D'Urso, M ^a   Ayuso, C ^a   Baiget, M ^a   Ciccodicola, A ^a  

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

Author keywords

Eye diseases; Mutation analysis; Retinal dystrophies; Retinitis pigmentosa GTPase regulator gene (RPGR); Retinitis pigmentosa3 (RP3); X linked gene

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR; GUANOSINE TRIPHOSPHATASE; RETINITIS PIGMENTOSA GTPASE REGULATOR; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; CLINICAL ARTICLE; EUROPE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; REGULATOR GENE; RETINITIS PIGMENTOSA; RNA ANALYSIS; TANDEM REPEAT; UNITED STATES;

BASE SEQUENCE; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; EUROPE; EXONS; EYE PROTEINS; FEMALE; GENE DELETION; HUMANS; INTRONS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, GENETIC; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; UNITED STATES; VARIATION (GENETICS); X CHROMOSOME;

EID: 0032858274     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200352     Document Type: Article

References (30)