Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

European Journal of Human Genetics

Volumn 6, Issue 3, 1998, Pages 291-295

  Rozet, Jean Michel ^a   Gerber, Sylvie ^a   Souied, Eric ^a   Perrault, Isabelle ^a   Châtelin, Sophie ^a   Ghazi, Imad ^a   Leowski, Corinne ^b   Dufier, Jean Louis ^a   Munnich, Arnold ^a   Kaplan, Josseline ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Institut National de Jeunes Sourds   (France)

Author keywords

ABCR mutations; Genotype phenotype correlations; Macular dystrophies; Stargardt disease

Indexed keywords

ABC TRANSPORTER;

ADULTHOOD; ARTICLE; CHILDHOOD; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN EXPERIMENT; MISSENSE MUTATION; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; STARGARDT DISEASE;

EID: 13144294983     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200221     Document Type: Article

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