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在患有Anderson-Fabry疾病的p.Arg301Gln GLA变体的患者中表现型表达和结果

Rocío Blanco1,2, Yolanda Rico-Ramírez3, Álvaro Hermida-Ameijeiras4

  • 1Cardiology Department, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain.

International journal of molecular sciences
|April 27, 2024
PubMed
概括

阿尔法-银酸酶A基因 (GLA) 中的p.Arg301Gln变异导致63%的透率导致安德森-法布里病 (AFD),主要影响心脏和脏问题的男性. 大多数患者缺乏经典症状,突出了基因型-表型理解的必要性.

关键词:
AFD AFD 是一个字.安德森法布里病的疾病.过度缩性心肌病变性心脏病.这是一种 lysosomal lysosomal.功能衰竭 功能衰竭α-银酸酶A 缺乏症

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