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Journal Abstract Search

225 related items for PubMed ID: 7616548

  • 1. Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.
    Noble JS, Taylor GR, Losowsky MS, Hall R, Turner G, Mueller RF, Stewart AD.
    J Med Genet; 1995 May; 32(5):389-92. PubMed ID: 7616548
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  • 6. Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome.
    Willems P, Vits L, Buntinx I, Raeymaekers P, Van Broeckhoven C, Ceulemans B.
    Genomics; 1993 Nov; 18(2):290-4. PubMed ID: 8288232
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  • 7. X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution.
    Edgar AJ, Vidyatilake HM, Wickramasinghe SN.
    Eur J Haematol; 1998 Jul; 61(1):55-8. PubMed ID: 9688293
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  • 8. Identification of an arginine452 to histidine substitution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia.
    Edgar AJ, Losowsky MS, Noble JS, Wickramasinghe SN.
    Eur J Haematol; 1997 Jan; 58(1):1-4. PubMed ID: 9020366
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  • 9. A family study of congenital X linked sideroblastic anaemia.
    Holmes J, May A, Geddes D, Jacobs A.
    J Med Genet; 1990 Jan; 27(1):26-8. PubMed ID: 2308152
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  • 11. Sideroblastic anaemia.
    May A, Fitzsimons E.
    Baillieres Clin Haematol; 1994 Dec; 7(4):851-79. PubMed ID: 7881157
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  • 18. A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.
    Prades E, Chambon C, Dailey TA, Dailey HA, Brière J, Grandchamp B.
    Hum Genet; 1995 Apr; 95(4):424-8. PubMed ID: 7705839
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  • 19. R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.
    Furuyama K, Uno R, Urabe A, Hayashi N, Fujita H, Kondo M, Sassa S, Yamamoto M.
    Br J Haematol; 1998 Dec; 103(3):839-41. PubMed ID: 9858242
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  • 20. Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.
    Bruyere H, Lewis S, Wood S, MacLeod PJ, Langlois S.
    Clin Genet; 1999 Mar; 55(3):173-81. PubMed ID: 10334471
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