Haplotype analysis indicated that the proband and her daughter Shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.
单倍型分析显示先证者及女儿具有相同的致病单倍型。结论报道了中国人常染色体显性遗传ed MD患者的表现型及基因型。
Haplotype analysis placed the critical region to a 7cM interval defined by D1S1653 and D1S2675. These results provide the basis for further identifying the gene responsible for IV disorder.
单体型作图将精确定位区域确定于D1S1653和D1S2675之间7厘摩的范围。这些结果将为进一步克隆寻常型鱼鳞病致病基因提供帮助。
Haplotype analysis placed the critical region to a 7cM interval defined by D1S1653 and D1S2675. These results provide the basis for further identifying the gene responsible for IV disorder.
单体型作图将精确定位区域确定于D1S1653和D1S2675之间7厘摩的范围。这些结果将为进一步克隆寻常型鱼鳞病致病基因提供帮助。
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