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关于GLAc.547+3A>G变异引起法布里病的病原性的明确解释

Mario Urtis1, Claudia Cavaliere1, Viviana Vilardo1

  • 1Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.

Genes
|September 28, 2024
PubMed
概括

来自美国医学遗传学院 (ACMG) 的病例级数据可以澄清超稀有GLA变异的致病性. 这种方法解决了安德森-法布里病的不确定的解释,提高了诊断准确度.

关键词:
安德森法布里病的疾病.电子显微镜的电子显微镜内心肌瘤活检内心肌瘤活检免疫组织化学 免疫组织化学变体解释变体解释

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