Phenotypic and genetic heterogeneity arising from a novel substitution at amino acid position Val205 in GATA1 related X-linked thrombocytopenia with dyserythropoietic anemia-Reference-Cited by-同舟云学术

Phenotypic and genetic heterogeneity arising from a novel substitution at amino acid position Val205 in GATA1 related X-linked thrombocytopenia with dyserythropoietic anemia

Published:2020-03 Issue: Volume:81 Page:102391
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Jamwal Manu,Aggarwal Anu,Sharma Prashant,Bansal Deepak,Maitra Arindam,Das Reena

Funder

Department of Biotechnology, Ministry of Science & Technology

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference8 articles.

1. X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis;Thompson;Blood,1977

2. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction;Yu;Blood,2002

3. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria;Phillips;Blood,2007

4. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1;Nichols;Nat. Genet.,2000

5. X-linked thrombocytopenia caused by a novel mutation of GATA-1;Mehaffey;Blood,2001

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