An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family

Movement Disorders

Volumn 26, Issue 5, 2011, Pages 905-909

  Ling, Helen ^a,b   Polke, James M ^c   Sweeney, Mary G ^c   Haworth, Andrea ^c   Sandford, Catherine A ^c   Heales, Simon J R ^c,d   Wood, Nicholas W ^c   Davis, Mary B ^c   Lees, Andrew J ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Dopa responsive dystonia; GCH1 duplication; Migraine; Novel mutation; Restless leg syndrome

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; MESSENGER RNA; PROCHLORPERAZINE;

ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CERVICAL DYSTONIA; COPY NUMBER VARIATION; DEPRESSION; DNA EXTRACTION; DOPA RESPONSIVE DYSTONIA; DYSTONIA; EXON; FEMALE; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENERALIZED DYSTONIA; GENETIC ANALYSIS; HAND TREMOR; HUMAN; INTRON; MEDICAL RECORD REVIEW; MIGRAINE; PEDIGREE ANALYSIS; POLYSOMNOGRAPHY; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESTLESS LEGS SYNDROME; RETROSPECTIVE STUDY; RNA ANALYSIS; TREATMENT RESPONSE;

ADULT; ANTIPARKINSON AGENTS; DYSTONIA; FAMILY HEALTH; FEMALE; GENES, DUPLICATE; GENETIC TESTING; GTP CYCLOHYDROLASE; HUMANS; LEVODOPA; MALE; YOUNG ADULT;

EID: 79955109495     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23593     Document Type: Article

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