Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying leber congenital amaurosis

European Journal of Human Genetics

Volumn 9, Issue 8, 2001, Pages 561-571

  Gerber, Sylvie ^a   Perrault, Isabelle ^a   Hanein, Sylvain ^a   Barbet, Fabienne ^a   Ducroq, Dominique ^a   Ghazi, Imad ^a   Martin Coignard, Dominique ^b   Leowski, Corinne ^c   Homfray, Tessa ^d   Dufier, Jean Louis ^a   Munnich, Arnold ^a   Kaplan, Josseline ^a   Rozet, Jean Michel ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Centre Hospitalier du Mans   (France)

^c Institut National des Jeunes Aveugles   (France)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Complete gene structure; Homozygosity mapping; Leber congenital amaurosis; RPGR interacting protein (RPGR1P1) gene

Indexed keywords

LEUCINE ZIPPER PROTEIN; REGULATOR PROTEIN; RETINITIS PIGMENTOSA GTPASE REGULATOR INTERACTING PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 14Q; CONGENITAL BLINDNESS; CONSANGUINITY; CONTROLLED STUDY; EXON; FAMILY; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC LINKAGE; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; INTRON; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; VISUAL IMPAIRMENT;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CATTLE; CHILD; CHROMOSOMES, HUMAN, PAIR 14; EXONS; FEMALE; GENOME, HUMAN; HUMANS; INTRONS; LEUCINE ZIPPERS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; PROTEINS;

EID: 17944371280     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200689     Document Type: Article

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