Heterozygous mutation in 5′-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

Neurogenetics

Volumn 5, Issue 3, 2004, Pages 187-190

  Steinberger, Daniela ^a,e   Blau, Nenad ^b   Goriuonov, Dimitri ^b   Bitsch, Juliane ^a   Zuker, Michael ^c   Hummel, Sibylla ^d   Müller, Ulrich ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c RENSSELAER POLYTECHNIC INSTITUTE   (United States)

^d UNIVERSITY OF FREIBURG   (Germany)

^e Bioscientia Center for Human Genetics   (Germany)

Author keywords

Biopterin metabolism; Dopa responsive dystonia; GCH1; Sepiapterin reductase

Indexed keywords

BIOPTERIN; SEPIAPTERIN REDUCTASE;

5' UNTRANSLATED REGION; ADULT; ARTICLE; CASE REPORT; DOPA RESPONSIVE DYSTONIA; DYSTONIA; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GENE MUTATION; HETEROZYGOSITY; HUMAN; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

5' UNTRANSLATED REGIONS; ADULT; ALCOHOL OXIDOREDUCTASES; BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; EXONS; FEMALE; FIBROBLASTS; HETEROZYGOTE; HUMANS; MODELS, BIOLOGICAL; MUTATION; POLYMERASE CHAIN REACTION; SKIN;

EID: 5444257312     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-004-0182-3     Document Type: Article

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