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Journal Abstract Search

83 related items for PubMed ID: 7898712

  • 1. A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.
    Navon R, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin JC, Rondot P.
    Neurology; 1995 Mar; 45(3 Pt 1):539-43. PubMed ID: 7898712
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  • 11. Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.
    Sinici I, Ozkara HA, Topçu M, Ciliv G.
    Pediatr Int; 2003 Feb; 45(1):16-22. PubMed ID: 12654063
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  • 12. Late onset GM2 gangliosidosis mimicking spinal muscular atrophy.
    Jamrozik Z, Lugowska A, Gołębiowski M, Królicki L, Mączewska J, Kuźma-Kozakiewicz M.
    Gene; 2013 Sep 25; 527(2):679-82. PubMed ID: 23820084
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  • 13. Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels.
    Cao Z, Petroulakis E, Salo T, Triggs-Raine B.
    J Biol Chem; 1997 Jun 06; 272(23):14975-82. PubMed ID: 9169471
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  • 14. Thermodynamic determination of plasma and leukocyte beta-hexosaminidase isoenzymes in homozygote and heterozygote carriers for the GM2 gangliosidosis B1 variant.
    Casal JA, Pérez LF, Tutor JC.
    Am J Clin Pathol; 2003 May 06; 119(5):684-8. PubMed ID: 12760286
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  • 15. [Late infantile and juvenile form of GM2-gangliosidosis variant B1].
    Eirís J, Chabás A, Coll MJ, Castro-Gago M.
    Rev Neurol; 2003 May 06; 29(5):435-8. PubMed ID: 10584247
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  • 16. Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
    Redonnet-Vernhet I, Mahuran DJ, Salvayre R, Dubas F, Levade T.
    Biochim Biophys Acta; 1996 Nov 15; 1317(2):127-33. PubMed ID: 8950198
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  • 19. Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant.
    Pérez LF, Ribeiro HM, Casal JA, Pinto RA, Sá Miranda MC, Tutor JC.
    Clin Chim Acta; 1999 Jul 15; 285(1-2):45-51. PubMed ID: 10481922
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  • 20. A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.
    Fernandes MJ, Hechtman P, Boulay B, Kaplan F.
    Eur J Hum Genet; 1997 Jul 15; 5(3):129-36. PubMed ID: 9272736
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