【病因与发病机制】HSP的遗传方式包括常染色体显性(autosomal dominant,AD)、常染色隐性(autosomal recessive,AR)和X连锁隐性遗传(X-linked re...
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常染色体显性(aLItOSOITlal dmnirlant)遗传的遗传性肿瘤综合征。家族性视网膜母细胞瘤患者从亲代遗传了一个异常的RB等位基因,当另一个RB等位基因发生突变、丢失等异常时...
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... 路-巴综合征 anarchy-telangiectasia 常染色体显性 autoblockl ascendant 常染色体 autosome ...
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常染色体显性多囊肾 autosomal dominant polycystic kidney ; ADPKD ; autosomal dominant polycystic kidney disease
常染色体显性遗传 autosomal dominant inheritance ; autosomal dominant ; AD
常染色体显性多囊肾病 ADPKD ; Autosomal dominant polycystic kidney disease
常染色体显性遗传病 autosomal dominant disorder ; autosomal dominant diseases ; autosomal dominant inherited disease ; autosomal dominant
常染色体显性耳聋 DFNA
常染色体显性基因 autosomal dominant gene
个呈常染色体显性 autosomal dominant
称为常染色体显性 autosomal dominant
为常染色体显性遗传 autosomal dominant retinitis pigmentosa ; autosomal dominant
目的:研究华东地区汉族人常染色体显性遗传性多囊肾病(adpkd)基因型与临床表现型的关系。
Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.
报道了一个遗传性小眼症家系的调查结果,该家系属于先天性睑裂狭小综合症,为常染色体显性遗传。
An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.
结论原发性高血压是由DNA损伤引起的人类表型缺陷,该病症符合常染色体显性遗传,具延迟外显性。
Conclusion: the essential hypertension is the human phenotype blemish caused by injured DNA. It is compatible with an autosomal dominant inheritance and its performance is delayed.
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