Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: Evidence of clinical heterogeneity at this locus

Journal of Medical Genetics

Volumn 36, Issue 6, 1999, Pages 447-451

  Rozet, Jean Michet ^a   Gerber, Sylvie ^a   Ghazi, Imad ^b   Perrault, Isabelle ^a   Ducroq, Dominique ^a   Souied, Eric ^a   Cabot, Annick ^a   Dufier, Jean Louis ^b   Munnich, Arnold ^a   Kaplan, Josseline ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Hopital Laennec   (France)

Author keywords

ABCR gene; RP19; Stargardt disease

Indexed keywords

ABC TRANSPORTER; ADENOSINE TRIPHOSPHATE;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CENTRAL SCOTOMA; CHOROID CAPILLARY LAYER; CHROMOSOME 1P; CLINICAL FEATURE; DISEASE COURSE; DNA DETERMINATION; FAMILIAL INCIDENCE; FEMALE; GENE AMPLIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; STARGARDT DISEASE; VISUAL IMPAIRMENT;

ADULT; ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CORNEAL DYSTROPHIES, HEREDITARY; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; RNA SPLICING;

EID: 0032998027     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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