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Updated: Jan 6, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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一个新的同名变异的分子特征在墨西哥的庞培病患者的新同名变异

Carmen Alaez-Verson1, Carlos Alberto González-Domínguez2, Imelda Vergara Sanchez3

  • 1Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City, Mexico.

Molecular genetics and metabolism reports
|October 13, 2025
PubMed
概括

发现GAA基因的一个新型同名变异在患有婴儿发病的庞培病 (PD) 的患者中具有病原性. 这一发现强调了在遗传诊断中分析RNA拼接对同名变异的重要性.

关键词:
阿尔法-葡萄糖酶缺乏症这就是GAA基因.婴儿发病的庞培病.墨西哥的患者患者.P. ((Lys933=) 的变种是什么?庞贝病是庞贝病的一种疾病.

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