A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form

NeuroReport

Volumn 10, Issue 3, 1999, Pages 487-491

  Brique, Serge ^a   Destée, Alain ^a   Lambert, Jean Charles ^b   Mouroux, Vincent ^b   Delacourte, André ^c   Amouyel, Philippe ^b   Chartier Harlin, Marie Christine ^b  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b INSTITUT PASTEUR DE LILLE   (France)

^c INSERM   (France)

Author keywords

Dopa responsive dystonia; GTP cyclohydrolase; Mutation; Parkinson's disease; Phenotype

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; ISOLEUCINE; LEVODOPA; LYSINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CASE REPORT; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; DYSTONIA; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; PRIORITY JOURNAL;

EID: 0033601982     PISSN: 09594965     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001756-199902250-00008     Document Type: Article

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