来自法国的15个家系中夏科-马里-图思病患者的分子特征分析。
Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigrees from France.
作者信息
Lucotte G, Berriche S, Bathelier C, Turpin J C, Jacob P, Paquet J M, Pluot M, Vandenberghe A
机构信息
Centre Regional de Neurogénétique, CHU de Reims, France.
出版信息
Genet Couns. 1995;6(4):355-60.
PMID:8775423
Abstract
Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigree from France: We collected 15 Charcot-Marie-Tooth (CMT) pedigrees from France. DNA polymorphisms analysis by Southern blotting with probes at the D17S122 locus demonstrated 17p duplication in three CMT1a families and in one sporadic case. Two families affected by CMT2 showed no evidence of the duplication.
摘要
来自法国15个家系的夏科-马里-图思病患者的分子特征分析：我们收集了来自法国的15个夏科-马里-图思病（CMT）家系。使用位于D17S122位点的探针通过Southern印迹法进行DNA多态性分析，结果显示在3个CMT1a家系和1例散发患者中存在17p重复。两个受CMT2影响的家系未显示出重复的证据。
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