Molecular Characterization and Novel Therapeutic Strategy for X-Linked Sideroblastic Anemia Associated with ALAS2 Missense Variants

被引：0

作者：

Ono, Koya ^{[1
]}

Fujiwara, Tohru ^{[1
,2
]}

Saito, Kei ^{[1
]}

Suzuki, Chie ^{[1
,2
]}

Takahashi, Noriyuki ^{[2
]}

Onodera, Koichi ^{[1
]}

Ichikawa, Satoshi ^{[1
]}

Fukuhara, Noriko ^{[3
]}

Onishi, Yasushi ^{[1
]}

Yokoyama, Hisayuki ^{[1
]}

Nakamura, Yukio ^{[4
]}

Harigae, Hideo ^{[1
,2
]}

机构：

[1] Tohoku Univ, Dept Hematol & Rheumatol, Grad Sch Med, Sendai, Miyagi, Japan

[2] Tohoku Univ Hosp, Diagnost Lab, Sendai, Miyagi, Japan

[3] Tohoku Univ Hosp, Dept Hematol & Rheumatol, Sendai, Miyagi, Japan

[4] RIKEN BioResource Res Ctr, Cell Engn Div, Tsukuba, Ibaraki, Japan

来源：

BLOOD | 2019年 / 134卷

关键词：

D O I：

10.1182/blood-2019-124810

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

3530

引用

页数：4

共 50 条

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[10] Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation
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