伊朗患者的TPP1变种:一种新型致病性同卵性变种引起神经状体脂症2

Nahid Vafaei1, Ali Mohebbi1, Zahra Rezaei2

  • 1Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Molecular syndromology
|February 15, 2024
PubMed
概括

一项针对伊朗患者的研究发现了TPP1基因中的一种新型致病变体,这是一种导致神经神经状脂症2疾病的病因. 这一发现有助于诊断和管理这种罕见的遗传疾病.

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