...章振林 可分为常染色体隐性遗传(autosomal recessive osteopetrosis,ARO)和常染色体显性遗传(autosomal dominant osteopetrosis,ADO).
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目的研究常染色体显性遗传型多囊肾病肾组织中细胞外基质和多囊蛋白-1的表达及与囊肿发生的关系。
Objective To study the expression of extracellular matrix and polycystin-1 in ADPKD and their relation to cyst formation.
目前根据遗传方式分为1型(常染色体显性)和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.
结节性硬化是一种常染色体显性遗传性疾病。过去临床上主要靠病人有癫痫、智力低下和皮脂腺瘤三大体征来诊断。
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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