A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
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Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutationsBiology of Heme in Mammalian Erythroid Cells and Related DisordersMutation analysis in primary immunodeficiency diseases: case studies.Sideroblastic anemia: functional study of two novel missense mutations in ALAS2Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.Molecular basis of hereditary iron homeostasis defects.Functional interaction of CP2 with GATA-1 in the regulation of erythroid promoters.Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.Microcytic anemia in a pregnant woman: beyond iron deficiency.Discovery of rare cells from voluminous single cell expression data
P2860
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P2860
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
description
2003 nî lūn-bûn
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2003 թուականի Մարտին հրատարակուած գիտական յօդուած
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2003年の論文
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2003年論文
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2003年論文
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name
A promoter mutation in the ery ...... X-linked sideroblastic anemia.
@ast
A promoter mutation in the ery ...... X-linked sideroblastic anemia.
@en
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase
@nl
type
label
A promoter mutation in the ery ...... X-linked sideroblastic anemia.
@ast
A promoter mutation in the ery ...... X-linked sideroblastic anemia.
@en
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase
@nl
prefLabel
A promoter mutation in the ery ...... X-linked sideroblastic anemia.
@ast
A promoter mutation in the ery ...... X-linked sideroblastic anemia.
@en
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase
@nl
P2093
P1433
P1476
A promoter mutation in the ery ...... X-linked sideroblastic anemia.
@en
P2093
Ala I Al-Sabah
Alison May
David F Bishop
Gillian S Masters
Philip D Cotter
Soumeya Bekri
Xiaojun Guo
P304
P356
10.1182/BLOOD-2002-06-1623
P407
P577
2003-03-27T00:00:00Z