Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

Nature Genetics

Volumn 22, Issue 2, 1999, Pages 188-191

  Yamamoto, Hiroyuki ^a   Simon, Andres ^b,c   Eriksson, Ulf ^b   Harris, Eddie ^a   Berson, Eliot L ^a   Dryja, Thaddeus P ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b LUDWIG INSTITUTE FOR CANCER RESEARCH   (Sweden)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

11 CIS RETINAL; OXIDOREDUCTASE; RETINOL DERIVATIVE;

ARTICLE; CATALYSIS; CHROMATOPHORE; CLINICAL ARTICLE; CONTROLLED STUDY; DARK ADAPTATION; ENZYME ACTIVITY; ENZYME PURIFICATION; GENE MUTATION; HUMAN; LIGHT ABSORPTION; METABOLISM; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DISEASE; VISION;

ADAPTATION, OCULAR; ADOLESCENT; ALCOHOL OXIDOREDUCTASES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; EYE DISEASES, HEREDITARY; FEMALE; FUNDUS OCULI; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; REFERENCE VALUES; RETINAL DEGENERATION; RETINITIS PIGMENTOSA;

EID: 0033033364     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/9707     Document Type: Article

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