APP、CST3、ITM2B基因突变在诱导遗传性脑淀粉样血管病综合征中的作用

Archives of hematology and blood diseases Pub Date : 2019-01-01 DOI:10.22259/2639-3581.0201001

S. Asadi

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摘要

HCAA综合征是一种遗传性疾病，可导致智力功能逐渐丧失(智力下降)、中风和其他神经系统问题。位于21号染色体长臂21q21.3的APP基因突变是HCAA综合征最常见的遗传原因。

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The Role of Genetics Mutations in Genes APP, CST3, ITM2B in Inducate Hereditary Cerebral Amyloid Angiopathy Syndrome

HCAA syndrome is a genetic disorder that can lead to gradual loss of intellectual function (mental decline), stroke, and other neurological problems in the middle of adulthood. The mutation in the APP gene, located in the long arm of chromosome 21 as 21q21.3, is the most common genetic cause of HCAA syndrome.

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Archives of hematology and blood diseases

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