Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β‐globin gene mutation causing dominantly inherited β‐thalassemia
Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β‐globin gene mutation causing dominantly inherited β‐thalassemia
复制标题
血红蛋白β神奈川[c.443A>C；p.(Ter148Serext*21)]：导致显性遗传性β地中海贫血的新型β珠蛋白基因突变
DOI：
10.1002/pbc.27871
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发表时间：
2019
影响因子：
3.2
通讯作者：
Goto Hiroaki
中科院分区：
文献类型：
--
作者：
Sugiyama Masanaka;Hamanoue Satoshi;Nagai Jun‐ichi;Tsurusaki Yoshinori;Kurosawa Kenji;Tanaka Mio;Tanaka Yukichi;Goto Hiroaki
胎儿血红蛋白和β-地中海贫血或Hb Sabine的非缺失遗传性持续存在的Escherian型复合杂合性证实了γ-珠蛋白基因转录中Δ γ-158 C> T突变的功能作用。
Compound heterozygosity for the Cretan type of non-deletional hereditary persistence of fetal hemoglobin and beta-thalassemia or Hb Sabine confirms the functional role of the Agamma-158 C> T mutation in gamma-globin gene transcription.