国外文献报道,在欧美人群中,这种呈帕金森氏综合症的对多巴胺治疗敏感的SCA2家系很少。
It is reported that the case of SCA2 with Parkinsonism pedigree which is sensitive to the Levo-dopa treatment is very rare,.
目的报道一个五代母系遗传的未知神经变性疾病家系。
Objective To report a five-generation Chinese family with unidentified maternally transmitted hereditary neurodegenerative disease.
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.
本文报道了一白癜风家系,对其发病原因进行了探讨。
A family history of vitiligo was reported in this paper, and the reason causing disease was discussed.
前言:目的:报道1例类脂蛋白沉积症家系,并对其家系成员的细胞外基质蛋白1 (ECM1)基因突变进行分析。
Objective: a Chinese family with lipoid proteinosis is reported and glycoprotein extracellular matrix protein 1 (ECM1) was identified.
前言:目的:报道1例类脂蛋白沉积症家系,并对其家系成员的细胞外基质蛋白1 (ECM1)基因突变进行分析。
Objective: a Chinese family with lipoid proteinosis is reported and glycoprotein extracellular matrix protein 1 (ECM1) was identified.
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