Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia

Archives of Neurology

Volumn 63, Issue 11, 2006, Pages 1605-1610

  Ohta, Etsuro ^a   Funayama, Manabu ^a,b   Ichinose, Hiroshi ^c   Toyoshima, Itaru ^d   Urano, Fumi ^c   Matsuo, Mitsuhiro ^e   Tomoko, Nishida ^f   Yukihiko, Konishi ^f   Yoshino, Syuji ^f   Yokoyama, Hiroyuki ^g   Shimazu, Hideki ^h   Maeda, Koji ^h   Hasegawa, Kazuko ^b   Obata, Fumiya ^a  

^a KITASATO UNIVERSITY   (Japan)

^b SAGAMIHARA NATIONAL HOSPITAL   (Japan)

^c TOKYO INSTITUTE OF TECHNOLOGY   (Japan)

^d AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e Nagasaki Prefectural Center of Medicine and Welfare for Children   (Japan)

^f KAGAWA UNIVERSITY   (Japan)

^g TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BIOPTERIN; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; MESSENGER RNA; NEOPTERIN;

ADOLESCENT; ADULT; ARTICLE; ASIAN; CEREBROSPINAL FLUID; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DYSTONIA; ENZYME ACTIVITY; EXON; FEMALE; GENE DELETION; GENE DOSAGE; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; ANIMALS; BIOPTERIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; EXONS; FEMALE; GTP CYCLOHYDROLASE; HUMANS; ISOLEUCINE; JAPAN; MALE; MICROSATELLITE REPEATS; MUTATION; NEOPTERIN; THREONINE;

EID: 33751004395     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.63.11.1605     Document Type: Article

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