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氨酸脱氨酶 (ADA) 缺陷的演变谱:根据46种变异的表达的ADA活性评估基因型致病性

Ines Santisteban1, Francisco X Arredondo-Vega1, Pawan Bali1

  • 1Department of Medicine, Division of Rheumatology and Immunology, Duke University School of Medicine, Durham, NC.

The Journal of allergy and clinical immunology
|August 25, 2024
PubMed
概括

氨酸脱氨酶 (ADA) 缺乏的致病性各不相同. 红细胞脱氧腺酸核酸 (dAXP) 水平与临床严重程度相关,并且可能比查婴儿的基因型类别提供更好的预后.

关键词:
氨酸脱氨酶缺乏症 氨酸脱氨酶缺乏症阿尔法Missense的意思是错误的意思这里是SCIDID SCID.拼接AIAI是什么意思综合免疫缺陷症是一种免疫缺陷症.脱氧腺氨酸核酸的核酸.基因拼接是基因拼接.基因变体 基因变体基因型-表型相关性相关性病原性是一种病原性.

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