Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation

Human Genetics

Volumn 105, Issue 3, 1999, Pages 226-230

  Hwu, Wuh Liang ^a   Wang, Pen Jung ^a,d   Hsiao, Kwang Jen ^b   Wang, Tso Ren ^a   Chiou, Yu Wei ^c   Lee, Yu May ^c  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c INSTITUTE OF BIOLOGICAL CHEMISTRY   (Taiwan)

^d TZU CHI UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

DOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; MESSENGER RNA; MUTANT PROTEIN; PHYTOHEMAGGLUTININ; RECOMBINANT ENZYME;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DYSTONIA; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME KINETICS; ESCHERICHIA COLI; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECESSIVE GENE; SCHOOL CHILD;

AMINO ACID SUBSTITUTION; CELL LINE; CHILD; DIHYDROXYPHENYLALANINE; DNA; DNA MUTATIONAL ANALYSIS; DNA, RECOMBINANT; DYSTONIA; ESCHERICHIA COLI; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENES, RECESSIVE; GTP CYCLOHYDROLASE; HELA CELLS; HOMOZYGOTE; HUMANS; MUTATION; PLASMIDS; POINT MUTATION; RNA, MESSENGER;

EID: 0032847339     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051093     Document Type: Article

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