The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition

Human Genetics

Volumn 107, Issue 3, 2000, Pages 276-284

  Gerber, Sylvie ^a   Rozet, Jean Michel ^a   Takezawa, Shin Ichiro ^b   Coutinho Dos Santos, Luisa ^c   Lopes, Lucilia ^c   Gribouval, Olivier ^a   Penet, Clotilde ^a   Perrault, Isabelle ^a   Ducroq, Dominique ^a   Souied, Eric ^a   Jeanpierre, Marc ^d   Romana, Serge ^a   Frezal, Jean ^e   Ferraz, Fernando ^a   Yu Umesono, Ruth ^b   Munnich, Arnold ^a   Kaplan, Josseline ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Grad Sch Biostudies Kyoto U   (Japan)

^c HOSPITAL DOS CAPUCHOS   (Portugal)

^d Hôpital Cochin ^*  (France)

^e HOSPITAL DONA ESTEFÂNIA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CLINICAL TRIAL; CONSANGUINITY; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE EXPRESSION; GENE LOCATION; GENE MAPPING; GENE SEQUENCE; GENE STRUCTURE; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; HUMAN CELL; JEW; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHOTORECEPTOR CELL; POPULATION GENETIC PARAMETERS; POPULATION RESEARCH; PORTUGAL; PRIORITY JOURNAL; RECEPTOR GENE; RETINA DEGENERATION; RETINITIS PIGMENTOSA; VISUAL FIELD DEFECT;

CHROMOSOMES, HUMAN, PAIR 15; CONSANGUINITY; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; HAPLOTYPES; HUMANS; JEWS; MALE; PEDIGREE; PORTUGAL; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RETINITIS PIGMENTOSA; SPAIN; TRANSCRIPTION FACTORS;

EID: 0033772292     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000350     Document Type: Article

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