该病具有遗传异质性,致病基因包含TSC1基因和TSC2基因,分别于1997年和1993年被克隆出。
TSC displays genetic heterogeneity with two known genes: TSC1 and TSC2, which was cloned in 1997 and 1993 respectively.
家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病,它是年轻人心源性猝死的首要病因。
Familial hypertrophic cardiomyopathy (FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait. It is the leading cause of sudden cardiac death (SCD) in youth.
因为,HSP是一组具有明显临床和遗传异质性的疾病,临床诊断和分型有一定的困难。
It is difficult to have a diagnosis of HSP for HSP is a clinically and genetically heterogeneous group of disorders.
结论CYP1B1基因具有明显的遗传异质性。
Conclusion Mutations in the CYP1B1 gene have genetic heterogeneity.
AD的遗传具有一定的异质性和复杂性。
先天性白内障种类较多,具有明显的遗传异质性。
The etiology of congenital cataract is heterogenous and its phenotype is various.
遗传性听力损害具有高度的遗传异质性,据估计与几百个基因有关。
Hereditary hearing impairment exhibits incredible genetic heterogeneity. It was estimated that several hundred genes associate with hereditary hearing impairment.
提示I164T突变可能不是本组2型糖尿病的重要遗传因素,且该基因位点突变具有种族异质性。
The result reveals that I164T mutation is not a major predisposing genetic factor for type 2 diabetes and the mutation in adiponectin gene is different in rac…
提示I164T突变可能不是本组2型糖尿病的重要遗传因素,且该基因位点突变具有种族异质性。
The result reveals that I164T mutation is not a major predisposing genetic factor for type 2 diabetes and the mutation in adiponectin gene is different in rac…
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