FUNCTIONAL ANALYSIS OF HETEROZYGOUS GATA1 DELETERIOUS MUTATIONS IN TWO CHINESE FEMALE PATIENTS AFFECTED BY DYSERYTHROPOIETIC ANEMIA, THROMBOCYTOPENIA AND PORPHYRIA, RESPECTIVELY

Wang Yongwei; Liu Gang; Guo Shanshan; Han Bing; Chang Yanzhong; Nie Guangjun

首页> 外文期刊>American Journal of Hematology >FUNCTIONAL ANALYSIS OF HETEROZYGOUS GATA1 DELETERIOUS MUTATIONS IN TWO CHINESE FEMALE PATIENTS AFFECTED BY DYSERYTHROPOIETIC ANEMIA, THROMBOCYTOPENIA AND PORPHYRIA, RESPECTIVELY

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FUNCTIONAL ANALYSIS OF HETEROZYGOUS GATA1 DELETERIOUS MUTATIONS IN TWO CHINESE FEMALE PATIENTS AFFECTED BY DYSERYTHROPOIETIC ANEMIA, THROMBOCYTOPENIA AND PORPHYRIA, RESPECTIVELY

机译：两种中国女性患者杂合性贫血患者的杂合性GATA 1有害突变的功能分析

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来源
《American Journal of Hematology》 |2017年第8期|共1页
作者
Wang Yongwei; Liu Gang; Guo Shanshan; Han Bing; Chang Yanzhong; Nie Guangjun;
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Natl Ctr Nanosci &

Technol CAS Ctr Excellence Nanosci CAS Key Lab Biomed Effects Nanomat &

Natl Ctr Nanosci &

Technol CAS Ctr Excellence Nanosci CAS Key Lab Biomed Effects Nanomat &

Natl Ctr Nanosci &

Technol CAS Ctr Excellence Nanosci CAS Key Lab Biomed Effects Nanomat &

Chinese Acad Med Sci Peking Union Med Coll Hosp Dept Hematol Beijing Peoples R China;

Hebei Normal Univ Coll Life Sci Lab Mol Iron Metab Shijiazhuang Hebei Province Peoples R China;

Natl Ctr Nanosci &

Technol CAS Ctr Excellence Nanosci CAS Key Lab Biomed Effects Nanomat &

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正文语种 eng
中图分类血液及淋巴系疾病;
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1. FUNCTIONAL ANALYSIS OF HETEROZYGOUS GATA1 DELETERIOUS MUTATIONS IN TWO CHINESE FEMALE PATIENTS AFFECTED BY DYSERYTHROPOIETIC ANEMIA, THROMBOCYTOPENIA AND PORPHYRIA, RESPECTIVELY [J] . Wang Yongwei, Liu Gang, Guo Shanshan, American Journal of Hematology . 2017,第8期

机译：两种中国女性患者杂合性贫血患者的杂合性GATA 1有害突变的功能分析
2. Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency [J] . Pereira Janet, Bento Celeste, Manco Licinio, Annals of hematology . 2016,第9期

机译：与丙酮酸激酶缺乏症加重的GATA1突变相关的先天性人类造血障碍性贫血
3. A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5UTR GATA1s Splice Mutation [J] . Zucker Jacob, Temm Constance, Czader Magdalena, Pediatric blood & cancer . 2016,第5期

机译：一个因新的5UTR GATA1s剪接突变而导致的贫血性贫血和巨核细胞发育异常的儿童。
4. Deleterious mutation analysis of BRCA1 based on　clinicopathologic evidence in Chinese familial and sporadic Breast cancer by whole sequencing [C] . Rensheng Lai, Changle Zhu, Lin Xie, International Forum on Progress on Post-Genome Technologies(5'IFPT); 20070910-11; Suzhou(CN) . 2007

机译：基于临床病理证据的中国家族性和散发性乳腺癌BRCA1有害突变全序列分析
5. Clinical implications of mutations in thep53 tumor suppressor gene in female patients with breast cancer. [D] . Lai, Hong Chen. 2002

机译：女性乳腺癌女性患者p53抑癌基因突变的临床意义。
6. Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia [O] . Yongjiang Zheng, Jiehua Xu, Shengran Liang, 2018

机译：全外显子组测序确定了中国罕见的轻度贫血型间歇性卟啉症患者HMBS基因的新型杂合突变
7. A child with dyserythropoietic anemia and megakaryocyte dysplasia due to a novel 5′UTR GATA1s splice mutation [O] . Zucker, Jacob, Temm, Constance, Czader, Magdalena, 2016

机译：一个因新的5'UTR GATA1s剪接突变而导致的贫血性贫血和巨核细胞发育异常的儿童

FUNCTIONAL ANALYSIS OF HETEROZYGOUS GATA1 DELETERIOUS MUTATIONS IN TWO CHINESE FEMALE PATIENTS AFFECTED BY DYSERYTHROPOIETIC ANEMIA, THROMBOCYTOPENIA AND PORPHYRIA, RESPECTIVELY

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