|
X-linked sideroblastic anemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.
|
21252495 |
2011 |
|
X-linked sideroblastic anemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
|
21309041 |
2011 |
|
X-linked sideroblastic anemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
|
19731322 |
2010 |
|
X-linked sideroblastic anemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
|
12031592 |
2002 |
|
X-linked sideroblastic anemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.
|
12393718 |
2002 |
|
X-linked sideroblastic anemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.
|
10577279 |
1999 |
|
X-linked sideroblastic anemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
|
10029606 |
1999 |
|
X-linked sideroblastic anemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.
|
9858242 |
1998 |
|
X-linked sideroblastic anemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
|
8107717 |
1994 |
|
X-linked sideroblastic anemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
"Enzymatic defect in ""X-linked"" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency."
|
1570328 |
1992 |
|
Iron Overload
|
|
0.010 |
GeneticVariation
|
BEFREE |
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.
|
16540354 |
2006 |
|
Sideroblastic anemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.
|
16540354 |
2006 |
|
Liver carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.
|
16540354 |
2006 |
|
Hereditary sideroblastic anemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Identification of an arginine452 to histidine substitution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia.
|
9020366 |
1997 |