Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene

European Journal of Human Genetics

Volumn 6, Issue 5, 1998, Pages 527-531

  Marlhens, Françoise ^a   Griffoin, Jean Michel ^a   Bareil, Corinne ^b   Arnaud, Bernard ^c   Claustres, Mireille ^b   Hamel, Christian P ^a,c,d  

^a Lab de Neurobiologie de l'Audition   (France)

^b Institute of Biology   (France)

^c GUI DE CHAULIAC HOSPITAL   (France)

^d INSERM   (France)

Author keywords

Gene mutation; Photoreceptor; Retinal dystrophy; Retinal pigment epithelium; Retinitis pigmentosa; RPE65

Indexed keywords

RETINOID; VISUAL PIGMENT;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DYSTROPHY;

EID: 0031763490     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200205     Document Type: Article

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