Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

Nature Genetics

Volumn 36, Issue 8, 2004, Pages 850-854

  Janecke, Andreas R ^a   Thompson, Debra A ^b   Utermann, Gerd ^a   Becker, Christian ^c   Hübner, Christian A ^d   Schmid, Eduard ^a   McHenry, Christina L ^b   Nair, Anita R ^b   Rüschendorf, Franz ^c   Heckenlively, John ^b   Wissinger, Bernd ^e   Nürnberg, Peter ^c,f   Gal, Andreas ^d  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

RETINAL; RETINOL; RETINOL DEHYDROGENASE;

ARTICLE; AUSTRIA; AUTOSOMAL RECESSIVE DISORDER; CELL DEGENERATION; CELL STRAIN COS7; CHILD; CHROMOSOME 14Q; CLINICAL ARTICLE; CONSANGUINITY; DNA MICROARRAY; EYE FUNDUS ALBIPUNCTATUS; FOUNDER EFFECT; GENE; GENE MUTATION; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOTE; HUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; PHOTORECEPTOR CELL; PRIORITY JOURNAL; RDH12 GENE; RETINA DYSTROPHY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALCOHOL OXIDOREDUCTASES; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; HUMANS; MALE; MUTATION; PEDIGREE; PHOTORECEPTORS; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL DEGENERATION;

EID: 3542999277     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1394     Document Type: Article

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