枫糖尿症是支链氨基酸代谢异常的体染色体隐性遗传疾病。
Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism.
遗传性嗜中性白血球减少症是一种常染色体隐性遗传疾病，该疾病导致成体中性粒细胞无法从骨髓迁移到血液中。
Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.
所谓隐性遗传疾病，像“泰-萨克斯病”、“囊性纤维化”，以及被称为“地中海贫血症”的血细胞疾病，都很罕见。
So-called recessively inherited disorders, such as Tay-Sachs disease, cystic fibrosis and red blood cell disorders known as thalessemias are rare.
牛白细胞粘附缺陷病(BLAD)是一种常染色体单基因隐性遗传疾病，病因为白细胞表面整合素cd 18亚单位基因突变所致。
Bovine leukocyte adhesion deficiency (BLAD) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.
由于Schinzel - Giedion早已被认为是由新生显性突变引起的，因此缩小候选基因的列表就与隐性遗传疾病略有不同。
Because Schinzel-Giedion was already thought to be caused by a DE novo, dominant mutation, narrowing down the list of candidate genes was slightly different than for inherited, recessive disorders.
由于Schinzel - Giedion早已被认为是由新生显性突变引起的，因此缩小候选基因的列表就与隐性遗传疾病略有不同。
Because Schinzel-Giedion was already thought to be caused by a DE novo, dominant mutation, narrowing down the list of candidate genes was slightly different than for inherited, recessive disorders.
应用推荐