|
Volumn 72, Issue 6, 2002, Pages 801-804
|
Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: Confusing the picture?
|
Author keywords
[No Author keywords available]
|
Indexed keywords
CARBIDOPA;
GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I;
LEVODOPA;
ADULT;
ARTICLE;
CLINICAL ARTICLE;
CLINICAL EXAMINATION;
CLINICAL FEATURE;
DYSTONIA;
FEMALE;
GENE DELETION;
GENE MUTATION;
HETEROZYGOSITY;
HUMAN;
MALE;
MOLECULAR GENETICS;
ONSET AGE;
PHENOTYPE;
PRIORITY JOURNAL;
ADOLESCENT;
ADULT;
CHILD;
CHILD, PRESCHOOL;
DIAGNOSIS, DIFFERENTIAL;
DYSTONIC DISORDERS;
FEMALE;
FRAMESHIFT MUTATION;
GTP CYCLOHYDROLASE;
HUMANS;
INFANT;
MALE;
MIDDLE AGED;
PEDIGREE;
PHENOTYPE;
POLYMERASE CHAIN REACTION;
|
EID: 0036266154
PISSN: 00223050
EISSN: None
Source Type: Journal
DOI: 10.1136/jnnp.72.6.801 Document Type: Article |
Times cited : (33)
|
References (24)
|