科研之友
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摘要
We report a novel alpha-thalassemia (alpha-thal) point mutation detected during newborn screening for hemoglobinopathies. Sequence analyses identified a frameshift mutation at codon 8 (-C) in exon 1 of the alpha 2-globin gene. This mutation causes an alpha(+)-thal phenotype.
- 出版日期2012
- 单位广州医科大学; 广州市妇女儿童医疗中心
