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Mutation p.Leu128Pro in the 1A domain of keratin 16 causes pachyonychia congenita with focal palmopl
[会议论文] 作者：Limeng Dai,Hong Guo,Dan Liu,Qiong Liao,Yun Bai,
来源：中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议 年份：2012
Pachyonychia congenita(PC),a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy,is classified into two main clinical subtypes,PC-1 and PC-2.PC-1 is associated with mutations...
Genetic analysis in a cohort of spinocerebellar ataxia patients in Chongqing district: identificatio
[会议论文] 作者：Hong Guo,Limeng Dai,Yun Bai,Min Song,Fengjuan Zhang,Qianning Li,Zhenghua Zhou,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
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Genetic analysis in a cohort of spinocerebellar ataxia patients in Chongqing district: identificatio
[会议论文] 作者：Hong Guo,Min Song,Fengjuan Zhang,Limeng Dai,Qianning Li,Zhenghua Zhou,Yun Bai,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
Purpose: To undertake an genetic spectrum analysis in patients with hereditary spinocerebellar ataxia (SCA) in Chongqing district.Methods: SCA 1, 2, 3, 6, 7, 8, 10,12, 17 and dentatorubral-palliodoluy...
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