• 目的研究常染色体显性遗传多囊肾病肾组织细胞外基质多囊蛋白-1表达囊肿发生的关系

    Objective To study the expression of extracellular matrix and polycystin-1 in ADPKD and their relation to cyst formation.

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  • 目前根据遗传方式分为1染色体显性2型(常染色体隐性) ,每一型根据不同基因缺陷又分为许多亚型。

    The limb-girdle muscular dystrophies are divided into two types according to inheritance pattern, type 1 is autosomal dominant and type 2 is autosomal recessive.

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  • 结节性硬化一种染色体显性遗传疾病。过去临床上主要病人有癫痫智力低下皮脂腺三大体征来诊断

    Tuberous sclerosis (TS) is an exceptional chromosomal inherited disease, This disease was mainly diagnosed by three clinical appearances: epilepsy, intellectual disturbance, and sebaceous adenoma.

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  • 作为卒中痴呆偏头痛病因,伴有皮质梗死白质脑病的染色体显性遗传性脑动脉病(CADASIL)越来越受到人们的重视

    As one of the causes of stroke, dementia and migraine, cerebral autosomal dominant with subcortical infarcts and leukoencephalopathy (CADASIL) has been paid increasing attention.

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  • 可能均为常染色体基因遗传,利手叠腿右型分别为显性性状;

    The hereditary mode of handedness or folding leg was likely the dominant heredity of single gene of autosome, and the right type of them was the dominant character.

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  • 先天性眼球一种先天发育眼科疾病遗传方式染色体显性遗传常染色体隐性遗传X连锁隐性遗传

    Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.

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  • 卷舌均为常染色体基因显性遗传,能卷舌能尖舌型分别为显性性状

    The hereditary mode of rolling tongue or pointed tongue was the dominant heredity of single gene of autosome, and the can-rolling type or can-pointed type was the dominant character.

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  • 2个完整代家51个核心系的系谱分析,发现瓣状甲的遗传特点常染色体单基因显性性状一致

    Analyzing the data of 51 nuclear families and 2 families with 3 generations, it was found that petaloid toenail had the same hereditary characters as a dominant single-gene trait.

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  • 2个完整代家51个核心系的系谱分析,发现瓣状甲的遗传特点常染色体单基因显性性状一致

    Analyzing the data of 51 nuclear families and 2 families with 3 generations, it was found that petaloid toenail had the same hereditary characters as a dominant single-gene trait.

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