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MeSH term |
Japanese |
Link |
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Mutation, Missense
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ミスセンス変異
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Chromosomes, Human, Pair 19
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ヒト第19染色体
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Genes, Dominant
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優性遺伝子
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Haplotypes
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ハプロタイプ
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Catalytic Domain
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触媒ドメイン
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Molecular Structure
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分子構造
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Amino Acid Sequence
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アミノ酸配列
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RNA Splice Sites
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RNAスプライス部位
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Genotype
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遺伝子型
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Genetic Linkage
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連鎖(遺伝学)
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Age of Onset
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発病年齢
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Conserved Sequence
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保存配列
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Founder Effect
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創始者効果
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Exons
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エクソン
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Base Sequence
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塩基配列
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Phenotype
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表現型
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Protein Conformation
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蛋白質高次構造
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Chromosomes, Human, Pair 7
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ヒト第7染色体
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Polymorphism, Genetic
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遺伝子多型
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Protein Structure, Tertiary
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蛋白質三次構造
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Amino Acid Substitution
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アミノ酸置換
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Sequence Homology, Amino Acid
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アミノ酸配列相同性
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Gene Deletion
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遺伝子欠失
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Genetic Testing
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遺伝学的スクリーニング
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Lod Score
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ロッドスコア
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Point Mutation
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点変異
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Cohort Studies
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コホート研究
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Heterozygote
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ヘテロ接合体
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Case-Control Studies
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症例対照研究
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Genetic Predisposition to Disease
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遺伝的素因(疾患)
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Mutation
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変異
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