| 1 | ALAS2, ASB, SUCLA2
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| X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
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| Bishop DF, Tchaikovskii V, Hoffbrand AV, Fraser ME, Margolis S.
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| J Biol Chem 287(34):28943-55. doi: 10.1074/jbc.M111.306423. Epub 2012 Jun 27.
2012
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| 2 | ALAS2, ASB
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| Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
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| Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B.
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| Hum Mutat 32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24.
2011
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| 3 | ALAS2, ASB
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| Hypoxia induces erythroid-specific 5-aminolevulinate synthase expression in human erythroid cells through transforming growth factor-beta signaling.
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| Kaneko K, Furuyama K, Aburatani H, Shibahara S.
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| FEBS J 276(5):1370-82.
2009
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| 4 | ALAS2, ASB
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| A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
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| Bekri S, May A, Cotter PD, Al-Sabah AI, Guo X, Masters GS, Bishop DF.
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| Blood 102(2):698-704. Epub 2003 Mar 27. 2003
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| 5 | ALAS2, ASB
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| 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.
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| Cotter PD, et al.
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| Blood 93(5):1757-69. 1999
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| 6 | ALAS2, ASB
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| A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia.
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| Harigae H, et al.
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| Br J Haematol 106(1):175-7 1999
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| 7 | ALAS2, ASB
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| Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene.
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| Edgar AJ, Wickramasinghe SN.
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| Br J Haematol 100(2):389-92. 1998
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| 8 | ALAS2, ASB
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| X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine 170 to leucine substitution.
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| Edgar AJ, Vidyatilake HM, Wickramasinghe SN.
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| Eur J Haematol 61 : 55-58. 1998
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| 9 | ALAS2, ASB
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| R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.
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| Furuyama K, et al.
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| Br J Haematol 103 : 839-841. 1998
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| 10 | ALAS2, ASB
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| Identification of an arginine452 to histidine substitution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia.
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| Edgar AJ, et al.
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| Eur J Haematol 58 : 1-4. 1997
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| 11 | ALAS2, ASB
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| Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene.
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| Furuyama K, Fujita H, Nagai T, Yomogida K, Munakata H, Kondo M, Kimura A, Kuramoto A, Hayashi N, Yamamoto M.
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| Blood 90(2):822-30. 1997
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| 12 | ASB, ALAS2
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| Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
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| Cotter PD, et al.
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| J Clin Invest 96 : 2090-2096. 1995
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| 13 | ASB, ALAS2
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| A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.
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| Prades E, et al.
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| Hum Genet 95 : 424-428. 1995
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| 14 | ASB
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| Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.
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| Noble JS, et al.
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| J Med Genet 32 : 389-392. 1995
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| 15 | ASB
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| X-linked pyridoxine-responsive sideroblastic anemia due to a THR388-TO-SER substitution in erythroid 5-aminolevulinate synthase.
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| Cox TC, et al.
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| N Engl J Med 330 : 675-679. 1994
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| 16 | ASB, ALAS2
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| X-linked sideroblastic anemia : identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by cooley.
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| Cotter PD, et al.
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| Blood 84 : 3915-3924. 1994
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| 17 | ASB
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| Enzymatic defect in X-linked sideroblastic anemia : molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
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| Cotter PD, et al.
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| Proc Natl Acad Sci U S A 89 : 4028-4032. 1992
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| 18 | ASAT, ASB, ALAS2
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| Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia.
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| Cox TC, et al.
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| Hum Mol Genet 1 : 639-641. 1992
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| 19 | ASB, ALAS2
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| Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia.
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| Dewald GW, et al.
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| Blood 59 : 100-105. 1985
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| 20 | ASB
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| Hereditary sideroblastic anemia and ataxia: an X-linked recessive disorder.
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| Pagon RA, et al.
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| J Med Genet 22 : 267-273. 1985
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