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A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia.

作者信息

Weatherall D J, Clegg J B, Knox-Macaulay H H, Bunch C, Hopkins C R, Temperley I J

出版信息

Br J Haematol. 1973 Jun;24(6):681-702. doi: 10.1111/j.1365-2141.1973.tb01696.x.

DOI:10.1111/j.1365-2141.1973.tb01696.x
PMID:4351905
Abstract
摘要

相似文献

1
A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia.一种具有地中海贫血和先天性红细胞生成异常性贫血特征的遗传性疾病。
Br J Haematol. 1973 Jun;24(6):681-702. doi: 10.1111/j.1365-2141.1973.tb01696.x.
2
A genetic anaemia with features of both thalassaemia and congenital dyserythropoietic anaemia.一种兼具地中海贫血和先天性红细胞生成异常性贫血特征的遗传性贫血。
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[Ultrastructure of disturbed erythropoiesis in congenital dyserythropoietic anemia].[先天性红细胞生成异常性贫血中红细胞生成紊乱的超微结构]
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Congenital dyserythropoietic anemia, type II: report of two cases and a review of the literature.先天性红细胞生成异常性贫血II型:两例报告及文献复习
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Congenital dyserythropoietic anaemia with erythroblastic multinuclearity.伴有成红细胞多核性的先天性红细胞生成异常性贫血
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Congenital dyserythropoietic anaemia: response to splenectomy and quantitation of ineffective erythropoiesis.先天性红细胞生成异常性贫血:脾切除反应及无效红细胞生成的定量分析
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[Haemolytic-splenomegalic erythropolydiskaryosis (a form of congenital dyserythropoietic anaemia). Study of a new case, prior to and after splenectomy (author's transl)].[溶血性脾肿大性红细胞多核症(先天性红细胞生成异常性贫血的一种形式)。脾切除术前及术后1例新病例的研究(作者译)]
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Congenital dyserythropoietic anaemia, type 3.先天性红细胞生成异常性贫血3型
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Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia.血红蛋白C与β地中海贫血显性双重杂合子:中间型地中海贫血的罕见病例。
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The molecular basis of β-thalassemia.β-地中海贫血的分子基础。
Cold Spring Harb Perspect Med. 2013 May 1;3(5):a011700. doi: 10.1101/cshperspect.a011700.
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From genotype to phenotype: genetics and medical practice in the new millennium.从基因型到表型:新千年的遗传学与医学实践
Philos Trans R Soc Lond B Biol Sci. 1999 Dec 29;354(1392):1995-2010. doi: 10.1098/rstb.1999.0539.
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beta+-Thalassemia intermedia with low HbF.伴有低胎儿血红蛋白的中间型β+地中海贫血
Klin Wochenschr. 1983 Jan 17;61(2):95-8. doi: 10.1007/BF01496661.
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J Clin Invest. 1974 Oct;54(4):948-56. doi: 10.1172/JCI107835.
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Electronmicroscopic and biochemical observations on erythroid cells in congenital dyserythropoietic anemia type II.II型先天性红细胞生成异常性贫血中红系细胞的电子显微镜及生化观察
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Studies of erythroblast function in congenital dyserythropoietic anaemia, type I: evidence of impaired DNA, RNA, and protein synthesis and unbalanced globin chain synthesis in ultrastructurally abnormal cells.I型先天性红细胞生成异常性贫血中幼红细胞功能的研究:超微结构异常细胞中DNA、RNA和蛋白质合成受损及珠蛋白链合成失衡的证据。
J Clin Pathol. 1986 Aug;39(8):881-90. doi: 10.1136/jcp.39.8.881.
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An aberrant type of congenital dyserythropoietic anemia associated with a beta-thalassemia trait.
Ann Hematol. 1991 May;62(5):184-7. doi: 10.1007/BF01703146.