A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

Item
http://www.wikidata.org/entity/Q34186693
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

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

Item
http://www.wikidata.org/entity/Q34186693
description
2003 nî lūn-bûn
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2003 թուականի Մարտին հրատարակուած գիտական յօդուած
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2003 թվականի մարտին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
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
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P356
P1433
P1476
A promoter mutation in the ery ...... X-linked sideroblastic anemia.
@en
P2093
P304
P31
P356
10.1182/BLOOD-2002-06-1623
P407
P433
P478
P577
P5875
P698