Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia

Qiu Yu; Cai Hao; Cui Lijia; Liu Ying-xian; Wang Yi-ning; Li Jian; Cao Xin-xin

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Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia

机译：用X型纵向囊性贫血鉴定X型血管血管血栓血患者中新型杂合子Alas2突变

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来源
《Annals of hematology》 |2020年第2期|共3页
作者
Qiu Yu; Cai Hao; Cui Lijia; Liu Ying-xian; Wang Yi-ning; Li Jian; Cao Xin-xin;
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作者单位

Chinese Acad Med Sci &

Peking Union Med Coll Dept Hematol Peking Union Med Coll Hosp 1;

Chinese Acad Med Sci &

Peking Union Med Coll Dept Hematol Peking Union Med Coll Hosp 1;

Chinese Acad Med Sci &

Peking Union Med Coll Dept Endocrinol Peking Union Med Coll Hosp Beijing;

Chinese Acad Med Sci &

Peking Union Med Coll Dept Cardiol Peking Union Med Coll Hosp Beijing;

Chinese Acad Med Sci &

Peking Union Med Coll Dept Radiol Peking Union Med Coll Hosp Beijing;

Chinese Acad Med Sci &

Peking Union Med Coll Dept Hematol Peking Union Med Coll Hosp 1;

Chinese Acad Med Sci &

Peking Union Med Coll Dept Hematol Peking Union Med Coll Hosp 1;

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原文格式 PDF
正文语种 eng
中图分类血液及淋巴系疾病;
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1. Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia [J] . Qiu Yu, Cai Hao, Cui Lijia, Annals of hematology . 2020,第2期

机译：用X型纵向囊性贫血鉴定X型血管血管血栓血患者中新型杂合子Alas2突变
2. A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man [J] . Jinbo Huang, Meili Ge, Yingqi Shao, BMC Medical Genomics . 2021,第1期

机译：Alas2基因中的血液脂肪属P.R204Q突变在成人中汉族的X型血管囊性下潜
3. Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia [J] . International journal of laboratory hematology . 2020,第4期

机译：X型血管囊性贫血患者alas2基因的新突变
4. Awakening of subject consciousness: the analysis of three young main different types of Chinese female representations based on TV series "All is well" [C] . Yao Cheng International Conference on Humanities Education and Social Sciences . 2019

机译：主题意识的觉醒：基于电视剧的三个年轻不同类型的中国女性陈述分析“一切都很好”
5. Identification of a mutation in COL4A5 causative for X-linked Alport syndrome in the domestic dog and analysis of gene expression in the kidneys of affected and nonaffected siblings. [D] . Cox, Melissa Luanne. 2003

机译：鉴定引起家犬X连锁Alport综合征的COL4A5突变，并分析患病和未患病兄弟姐妹肾脏中的基因表达。
6. A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia [O] . Soo Young Moon, In-Jae Jun, Ji-Eun Kim, 2014

机译：一个X连锁铁粒幼细胞性贫血的韩国年轻人的ALAS2基因中的新型半合子I418S突变。
7. A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia [O] . Soo Young Moon, In-Jae Jun, Ji-Eun Kim, 2014

机译：X型血管囊性贫血血液杨氏男子中alas2基因的一种新型血红素I418s突变

Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia

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