Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia

Movement Disorders

Volumn 26, Issue 11, 2011, Pages 2140-2141

  Sharma, Nutan ^a   Armata, Ioanna A ^a   Multhaupt Buell, Trisha J ^a   Ozelius, Laurie J ^b   Xin, Winnie ^a   Sims, Katherine B ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA PLUS LEVODOPA; GENOMIC DNA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; ROPINIROLE;

5' UPSTREAM REGION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE DURATION; DNA STRUCTURE; DOPA RESPONSIVE DYSTONIA; DRUG RESPONSE; DRUG WITHDRAWAL; DYSTONIA; EXON; GENE MUTATION; GENE SEQUENCE; HUMAN; LETTER; LOW DRUG DOSE; NAUSEA; PRIORITY JOURNAL; SYMPTOMATOLOGY;

5' UNTRANSLATED REGIONS; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; FAMILY HEALTH; FEMALE; GTP CYCLOHYDROLASE; HUMANS; MALE; MUTATION;

EID: 80052965153     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23786     Document Type: Letter

References (5)

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