rs137852310
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
|
|
|
rs137852299
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs137852300
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs137852301
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs137852305
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs137852308
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs137852311
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs1338391423
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs185504937
|
|
|
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 |
rs185504937
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.
|
12393718 |
2002 |
rs185504937
|
|
|
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 |
rs185504937
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
|
8107717 |
1994 |
rs185504937
|
|
|
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 |
rs185504937
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.
|
9858242 |
1998 |
rs185504937
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
|
19731322 |
2010 |
rs185504937
|
|
|
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 |
rs185504937
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
"Enzymatic defect in ""X-linked"" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency."
|
1570328 |
1992 |
rs185504937
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
|
12031592 |
2002 |
rs201062903
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.
|
12393718 |
2002 |
rs201062903
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.
|
9858242 |
1998 |
rs201062903
|
|
|
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 |
rs201062903
|
|
|
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 |
rs201062903
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
|
19731322 |
2010 |
rs201062903
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
"Enzymatic defect in ""X-linked"" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency."
|
1570328 |
1992 |
rs201062903
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
|
8107717 |
1994 |