|
MeSH term |
Japanese |
Link |
01 |
|
|
Mutation, Missense
|
ミスセンス変異
|
|
|
|
|
Uniparental Disomy
|
片親性ダイソミー
|
|
|
|
|
Genes, Recessive
|
劣性遺伝子
|
|
|
|
|
Mutation
|
変異
|
|
|
|
|
Frameshift Mutation
|
フレームシフト変異
|
|
|
|
|
Alleles
|
対立遺伝子
|
|
|
|
|
Genotype
|
遺伝子型
|
|
|
|
|
Gene Frequency
|
遺伝子頻度
|
|
|
|
|
Protein Structure, Tertiary
|
蛋白質三次構造
|
|
|
|
|
Sequence Deletion
|
配列欠失
|
|
|
|
|
Amino Acid Sequence
|
アミノ酸配列
|
|
|
|
|
Exons
|
エクソン
|
|
|
|
|
Microsatellite Repeats
|
マイクロサテライトリピート
|
|
|
|
|
Genetic Testing
|
遺伝学的スクリーニング
|
|
|
|
|
Chromosomes, Human, Pair 1
|
ヒト第1染色体
|
|
|
|
|
Polymorphism, Single-Stranded Conformational
|
PCR-SSCP法
|
|
|
|
|
Visual Fields
|
視野
|
|
|
|
|
Genetic Counseling
|
遺伝相談
|
|
|
|
|
Alternative Splicing
|
選択的スプライシング
|
|
|
|
|
Codon, Terminator
|
終止コドン
|
|
|
|
|
Computational Biology
|
バイオインフォマティクス
|
|
|
|
|
Founder Effect
|
創始者効果
|
|
|
|
|
Genetic Variation
|
遺伝的多様性
|
|
|
|
|
Introns
|
イントロン
|
|
|
|
|
Codon, Nonsense
|
ナンセンスコドン
|
|
|
|
|
Prevalence
|
有病率
|
|
|
|
|
Open Reading Frames
|
オープンリーディングフレーム
|
|
|
|
|
Linkage Disequilibrium
|
連鎖不平衡
|
|
|
|
|
Glycosylation
|
-
|
|
|
|
|
Evolution, Molecular
|
分子進化
|
|
|
|
|
Mutagenesis
|
変異誘発
|
|
|
|
|
Age of Onset
|
発病年齢
|
|
|
|
|
RNA Splicing
|
RNAスプライシング
|
|
|
|
|
Protein Structure, Secondary
|
蛋白質二次構造
|
|
|
|
|
Polymorphism, Genetic
|
遺伝子多型
|
|
|
|
|
Conserved Sequence
|
保存配列
|
|
|
|
|
Phenotype
|
表現型
|
|
|
|
|
Polymorphism, Single Nucleotide
|
一塩基多型
|
|
|
|
|
Sequence Homology, Amino Acid
|
アミノ酸配列相同性
|
|
|
|
|
Haplotypes
|
ハプロタイプ
|
|
|
|
|
Protein Conformation
|
蛋白質高次構造
|
|
|
|
|
Gene Expression Regulation, Developmental
|
発生遺伝子発現調節
|
|
|
|
|
Case-Control Studies
|
症例対照研究
|
|
|
|
|
Base Sequence
|
塩基配列
|
|
|
|
|
Gene Expression
|
遺伝子発現
|
|
|
