与GATA1突变相关的先天性红细胞生成异常性贫血因丙酮酸激酶缺乏而加重。 - Suppr | 超能文献

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Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.与GATA1突变相关的先天性红细胞生成异常性贫血因丙酮酸激酶缺乏而加重。

Ann Hematol. 2016 Sep;95(9):1551-3. doi: 10.1007/s00277-016-2720-0. Epub 2016 Jun 24.

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A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5'UTR GATA1s Splice Mutation.一名因新型5'非翻译区GATA1s剪接突变导致的红细胞生成异常性贫血和巨核细胞发育异常患儿。

Pediatr Blood Cancer. 2016 May;63(5):917-21. doi: 10.1002/pbc.25871. Epub 2015 Dec 29.

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Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney.患有丙酮酸激酶缺乏症和同时存在单侧多囊性发育不良肾的儿童中的红细胞生成异常。

Pediatr Blood Cancer. 2014 Aug;61(8):1463-5. doi: 10.1002/pbc.24953. Epub 2014 Jan 30.

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GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.GATA1对SEC23B表达的红系特异性调控及其在II型先天性红细胞生成异常性贫血发病机制中的意义。

Haematologica. 2017 Sep;102(9):e371-e374. doi: 10.3324/haematol.2016.162966. Epub 2017 May 26.

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Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II.即将揭开I型和II型先天性红细胞生成异常性贫血的秘密。

Haematologica. 2009 May;94(5):599-602. doi: 10.3324/haematol.2009.005785.

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A novel variant mutation for congenital dyserythropoietic anemia, type II.

Blood Cells Mol Dis. 2014 Dec;53(4):272-3. doi: 10.1016/j.bcmd.2014.04.003. Epub 2014 May 5.

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Compound heterozygosity in gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency.一种先前未被识别的内含子多态性基因与一种罕见错义突变的复合杂合性，作为严重丙酮酸激酶缺乏症的新病因。

Haematologica. 2019 Sep;104(9):e428-e431. doi: 10.3324/haematol.2018.214692. Epub 2019 Apr 4.

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Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.丙酮酸激酶缺乏症模拟先天性红细胞生成不良性贫血Ⅰ型。

Turk J Pediatr. 2022;64(5):951-955. doi: 10.24953/turkjped.2021.4704.

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Phenotypic and genetic heterogeneity arising from a novel substitution at amino acid position Val205 in GATA1 related X-linked thrombocytopenia with dyserythropoietic anemia.与红细胞生成异常性贫血相关的X连锁血小板减少症中，GATA1基因第205位氨基酸缬氨酸发生新的替代所导致的表型和遗传异质性。

Blood Cells Mol Dis. 2020 Mar;81:102391. doi: 10.1016/j.bcmd.2019.102391. Epub 2019 Nov 30.

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Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 (G208R) mutation.携带胚系 GATA1（G208R）突变的杂合子和纯合子携带者的长期结局。

Ann Hematol. 2011 Mar;90(3):301-6. doi: 10.1007/s00277-010-1088-9. Epub 2010 Oct 5.

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A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.一种新型 GATA1 变异位于 C 末端锌指结构中，与 N 末端锌指中具有可能致病性变异的患者的血小板表型进行比较。

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Novel Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a Variant.新型变异导致伴有血小板α-/δ-贮存池缺陷和轻度红细胞生成异常的出血表型，受变异修饰。

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