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1. アルツハイマー病の遺伝学genetics of alzheimer disease [show details]
…genetic basis of AD resulted from studies of families displaying autosomal dominant inheritance of the disorder. These studies used linkage-based methodology, in which a relatively small number (on the order …
2. 遺伝学：用語集genetics glossary of terms [show details]
… Linkage therefore implies the linked loci are in close physical proximity to each other. The genetic linkage distance is expressed as the… such as autosomal dominant, autosomal recessive, or X-linked recessive or dominant inheritance.…
3. 家族性筋萎縮性側索硬化症familial amyotrophic lateral sclerosis [show details]
… ALS was first suggested by a study that combined whole-exome sequencing with linkage analysis in families with autosomal dominant presentations of multisystem proteinopathy . The investigators found nonsynonymous …
4. 本態性振戦：臨床的特徴と診断essential tremor clinical features and diagnosis [show details]
…those with onset at or before the age of 40 years . Evidence from family and linkage studies suggests an autosomal dominant inheritance pattern with reduced penetrance . First-degree relatives of patients…
5. 心房細動の疫学および危険因子epidemiology of and risk factors for atrial fibrillation [show details]
…consistent with a single disease-causing gene. Both autosomal dominant and autosomal recessive forms have been identified. Genetic linkage analysis has identified loci at 10q22-q24, 11p15.5, 6q14-16, 3p22-p25 …