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机译:保加利亚大家族OPMD的独特PABPN1基因突变
Dept. of Neurology University Hospital ampquotAlexandrovskaampquot Medical University Sofia Bulgaria Georgi Sofiiski Str. 1 1000 Sofia Bulgaria;
Dept. of Neurology University Halle-Wittenberg Halle Germany;
Dept. of Neurology University Hospital ampquotAlexandrovskaampquot Medical University Sofia Bulgaria Georgi Sofiiski Str. 1 1000 Sofia Bulgaria;
Dept. of Neurology University Hospital ampquotAlexandrovskaampquot Medical University Sofia Bulgaria Georgi Sofiiski Str. 1 1000 Sofia Bulgaria;
Dept. of Neurology University Hospital ampquotAlexandrovskaampquot Medical University Sofia Bulgaria Georgi Sofiiski Str. 1 1000 Sofia Bulgaria;
Friedrich-Baur-Institute Dept. of Neurology Ludwig-Maximilians-University Munich Germany;
Dept. of Neurology University Halle-Wittenberg Halle Germany;
机译:GCG)11发起人OPMD乌拉圭家庭的PABPN1基因突变。
机译:眼咽肌营养不良症(OPMD):对86例患者中PABPN1基因扩增序列的分析揭示了13种不同的扩增类型,并进一步证明了不平等重组是突变机制。
机译:严重的OPMD表型与聚(A)结合蛋白核1(PABPN1)基因的双重突变相关联-病例报告
机译:紫色细菌的PUF操纵子中含有的两个独特基因的突变分析,Rubrivivax Gelatinosus
机译:两个病态窦房结综合征和房颤/房室结折返性心动过速患者的电压门控离子通道基因的DNA突变分析。
机译:用PABPN1 C.35G C的日本肌咽肌营养不良(OPMD)的日本案例; P.Gly12Ala点突变
机译:由于PABPN1基因中的小重复,Oculopharyngeal肌营养不良(OPMD)