A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease)
Identifieur interne : 003A47 ( Main/Exploration ); précédent : 003A46; suivant : 003A48A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease)
Auteurs : Etsuro Ohta [Japon] ; Itaru Toyoshima [Japon] ; Manabu Funayama [Japon] ; Hiroshi Ichinose [Japon] ; Kazuko Hasegawa [Japon] ; Fumiya Obata [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-08.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : GTP Cyclohydrolase, Isoleucine, Threonine.
- genetics : Dystonic Disorders.
- methods : DNA Mutational Analysis.
- Adult, Child, Exons, Female, Humans, Mutation.
Url:
DOI: 10.1002/mds.20490
Affiliations:
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- to stream PubMed, to step Corpus: 003064
- to stream PubMed, to step Curation: 003064
- to stream PubMed, to step Checkpoint: 003259
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Le document en format XML
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<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
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<term>GTP Cyclohydrolase (genetics)</term>
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<term>Isoleucine (genetics)</term>
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