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1. 補体系の遺伝性疾患 inherited disorders of the complement system
2. 免疫不全症を引き起こすミエロペルオキシダーゼ欠損症および酵素白血球欠損症 myeloperoxidase deficiency and other enzymatic wbc defects causing immunodeficiency
3. 抗酸菌易感染性を示すメンデル型遺伝性疾患：特異的な遺伝子異常 mendelian susceptibility to mycobacterial diseases specific defects
4. プロテインC欠乏症：臨床症状および診断 protein c deficiency clinical manifestations and diagnosis
5. 銅欠乏性脊髄神経障害 copper deficiency myeloneuropathy

Japanese Journal

藤野泰輝 [訳],高山哲治 [訳],Thirlwell Christina [他]
Review of gastroenterology & clinical gastroenterology and hepatology 5(3), 19-23, 2010-11
NAID 40017376752

Le syndrome de Marfan, qu’est-ce que c'est ? Marfan syndrome - Wikipedia がん細胞の成り立ち | ドクターズガイド（家庭の医学）

リンク元	「ヘテロ接合性欠失」「ツーヒット機構」
関連記事	「欠損」「接合性」「ヘテロ」

Loss of heterozygosity (LOH) in a cell represents the loss of normal function of one allele of a gene in which the other allele was already inactivated. This term is mostly used in the context of oncogenesis; after an inactivating mutation in one allele of a tumor suppressor gene occurs in the parent's germline cell, it is passed on to the zygote resulting in an offspring that is heterozygous for that allele. In oncology, loss of heterozygosity occurs when the remaining functional allele in a somatic cell of the offspring becomes inactivated by mutation. This results in no normal tumor suppressor being produced and this could result in tumorigenesis.