WordNet

(genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism (同)genetic mutation, chromosomal_mutation
a change or alteration in form or qualities
(genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors" (同)cistron, factor
informal term for information; "give me the gen on your new line of computers"

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1. ジストニアの分類および評価 classification and evaluation of dystonia
2. 小児における運動過多な運動障害 hyperkinetic movement disorders in children
3. 上皮成長因子受容体変異を有する進行非小細胞肺癌に対する全身療法 systemic therapy for advanced non small cell lung cancer with an activating mutation in the epidermal growth factor receptor
4. プロトロンビン遺伝子突然変異：血栓症リスクおよび診断 prothrombin gene mutation thrombotic risk and diagnosis
5. 進行非小細胞肺癌に対する遺伝子型による個別治療 personalized genotype directed therapy for advanced non small cell lung cancer

Morgante F, Klein C.
Continuum (Minneapolis, Minn.).Continuum (Minneap Minn).2013 Oct;19(5 Movement Disorders):1225-41. doi: 10.1212/01.CON.0000436154.08791.67.
PURPOSE OF REVIEW: The purpose of this review is to provide an update on the classification, phenomenology, pathophysiology, and treatment of dystonia.RECENT FINDINGS: A revised definition based on the main phenomenologic features of dystonia has recently been developed in an expert consensus approa
PMID 24092288

Lohmann K1, Klein C.
Movement disorders : official journal of the Movement Disorder Society.Mov Disord.2013 Jun 15;28(7):899-905. doi: 10.1002/mds.25536.
Although all forms of dystonia share the core clinical features of involuntary dystonic dyskinesia, there is not only marked phenotypic but also etiologic heterogeneity. Isolated dystonia can be caused by mutations in TOR1A (DYT1), TUBB4 (DYT4), THAP1 (DYT6), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DY
PMID 23893446

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

Sharma N, Armata IA, Multhaupt-Buell TJ, Ozelius LJ, Xin W, Sims KB.
Movement disorders : official journal of the Movement Disorder Society.Mov Disord.2011 Sep;26(11):2140-1. doi: 10.1002/mds.23786. Epub 2011 Jun 14.
PMID 21674621