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"

PrepTutorEJDIC

変化,俸転 / (生物の)突然変異;その変種
遺伝子

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1. アミロイド心筋症の臨床症状および診断 clinical manifestations and diagnosis of amyloid cardiomyopathy
2. Model for End-stage Liver Disease (MELD)
3. アミロイド疾患の遺伝的要因 genetic factors in the amyloid diseases
4. 全身性疾患のミオパシー myopathies of systemic disease
5. アミロイドーシスの概要 overview of amyloidosis

English Journal

Japanese Journal

家族性アミロイドポリニューロパチーの1孤発例に対するタファミジスの使用経験

日本老年医学会雑誌 54(1), 75-80, 2017
NAID 130005394584

遺伝性ATTRアミロイドーシスの治療の現状と今後の展望

神経治療学 33(2), 163-166, 2016
NAID 130005256645

古典型脳表ヘモジデリン沈着症を呈したVal30Metホモ接合体家族性アミロイドポリニューロパチーの1例

臨床神経学 56(6), 430-434, 2016
NAID 130005158856

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Mutation p.G83R in the transthyretin gene is associated with ...

Methods We performed clinical evaluation of three Han Chinese families with HVA and sequenced the entire exon of the TTR gene in probands and normal individuals from the families. The identified mutation was further ...

Mutation p.G83R in the transthyretin gene is associated with ...

1. Mol Vis. 2013 Jul 25;19:1631-8. Print 2013. Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families. Zhang AM, Wang H, Sun P, Hu QX, He Y, Yao YG. Key Laboratory ...