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一个新的HBB分子鉴定和表型研究:c.-23A>G突变在5'未翻译区域

Shichun Shen1, Jungao Huang1, Haimei Qi2

  • 1Department of Medical Genetics, Ganzhou Maternal and Child Health Hospital, Ganzhou, China.

Frontiers in medicine
|November 17, 2025
PubMed
概括

在中国甘南 (Gannan) 常见的HBB:c.-23A>G突变,显示载体频率为3.89/10,000. 这项研究表明,这种突变可能是良性的,有助于预防β-thalassemia的遗传咨询.

关键词:
5′未翻译的区域血液学参数 血液学参数免费能源的最低限度.新型突变 新型突变的β-环球蛋白基因.

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