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Journal Abstract Search

237 related items for PubMed ID: 28840292

  • 21. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.
    Bottomley SS, May BK, Cox TC, Cotter PD, Bishop DF.
    J Bioenerg Biomembr; 1995 Apr; 27(2):161-8. PubMed ID: 7592563
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  • 22. Late-onset X-linked sideroblastic anemia following hemodialysis.
    Furuyama K, Harigae H, Kinoshita C, Shimada T, Miyaoka K, Kanda C, Maruyama Y, Shibahara S, Sassa S.
    Blood; 2003 Jun 01; 101(11):4623-4. PubMed ID: 12531813
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  • 23. New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.
    Kucerova J, Horvathova M, Mojzikova R, Belohlavkova P, Cermak J, Divoky V.
    Acta Haematol; 2011 Jun 01; 125(4):193-7. PubMed ID: 21252495
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  • 24. Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.
    Kaneko K, Furuyama K, Fujiwara T, Kobayashi R, Ishida H, Harigae H, Shibahara S.
    Haematologica; 2014 Feb 01; 99(2):252-61. PubMed ID: 23935018
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  • 25. A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
    Bekri S, May A, Cotter PD, Al-Sabah AI, Guo X, Masters GS, Bishop DF.
    Blood; 2003 Jul 15; 102(2):698-704. PubMed ID: 12663458
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  • 27. Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.
    Lee PL, Barton JC, Rao SV, Acton RT, Adler BK, Beutler E.
    Blood Cells Mol Dis; 2006 Jul 15; 36(2):292-7. PubMed ID: 16446107
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  • 30. A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype.
    Bhatia P, Singh A, Hedge A.
    J Pediatr Hematol Oncol; 2017 Aug 15; 39(6):463-465. PubMed ID: 28731922
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  • 31. Gene symbol: ALAS2. Disease: sideroblastic anaemia.
    Gonçalves P, Pereira JC, Rebelo U, Ribeiro ML.
    Hum Genet; 2004 Nov 15; 115(6):531. PubMed ID: 15565468
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  • 34. Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.
    Cazzola M, May A, Bergamaschi G, Cerani P, Ferrillo S, Bishop DF.
    Blood; 2002 Dec 01; 100(12):4236-8. PubMed ID: 12393718
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  • 35. [Progress of study on sideroblastic anemia and its possible gene therapy--review].
    Wang YQ, Zhu P.
    Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2005 Jun 01; 13(3):524-8. PubMed ID: 15972158
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  • 37. Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia.
    Li J, Chen L, Lin Y, Ru K.
    Int J Lab Hematol; 2020 Aug 01; 42(4):e160-e163. PubMed ID: 32297424
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  • 38. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.
    Cotter PD, Rucknagel DL, Bishop DF.
    Blood; 1994 Dec 01; 84(11):3915-24. PubMed ID: 7949148
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  • 39. Recent advances in the understanding of inherited sideroblastic anaemia.
    Camaschella C.
    Br J Haematol; 2008 Oct 01; 143(1):27-38. PubMed ID: 18637800
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  • 40. Gene symbol: ALAS2. Disease: sideroblastic anaemia.
    Gonçalves P, Pereira JC, Ribeiro ML.
    Hum Genet; 2004 Nov 01; 115(6):532. PubMed ID: 15678585
    [No Abstract] [Full Text] [Related]

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