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Journal Abstract Search

133 related items for PubMed ID: 2831042

  • 1. Fabry disease: molecular diagnosis of hemizygotes and heterozygotes.
    Desnick RJ, Bernstein HS, Astrin KH, Bishop DF.
    Enzyme; 1987; 38(1-4):54-64. PubMed ID: 2831042
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  • 3. Fabry disease: molecular genetics of the inherited nephropathy.
    Desnick RJ, Astrin KH, Bishop DF.
    Adv Nephrol Necker Hosp; 1989; 18():113-27. PubMed ID: 2564247
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  • 5. Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.
    Kirkilionis AJ, Riddell DC, Spence MW, Fenwick RG.
    J Med Genet; 1991 Apr; 28(4):232-40. PubMed ID: 1677424
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  • 7. Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A.
    Kornreich R, Astrin KH, Desnick RJ.
    Genomics; 1992 May; 13(1):70-4. PubMed ID: 1349583
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  • 9. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].
    Sakuraba H.
    Rinsho Byori; 1994 Jun; 42(6):628-35. PubMed ID: 7914243
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  • 11. Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification.
    Kornreich R, Desnick RJ.
    Hum Mutat; 1993 Jun; 2(2):108-11. PubMed ID: 8318986
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  • 12. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
    Eng CM, Desnick RJ.
    Hum Mutat; 1994 Jun; 3(2):103-11. PubMed ID: 7911050
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  • 13. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
    Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ.
    Am J Hum Genet; 1993 Dec; 53(6):1186-97. PubMed ID: 7504405
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  • 14. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
    Germain DP, Poenaru L.
    Biochem Biophys Res Commun; 1999 Apr 21; 257(3):708-13. PubMed ID: 10208848
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  • 19. Novel alpha-galactosidase A mutation in a female with recurrent strokes.
    Tuttolomondo A, Duro G, Miceli S, Di Raimondo D, Pecoraro R, Serio A, Albeggiani G, Nuzzo D, Iemolo F, Pizzo F, Sciarrino S, Licata G, Pinto A.
    Clin Biochem; 2012 Nov 21; 45(16-17):1525-30. PubMed ID: 22820434
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  • 20. Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
    Sakuraba H, Eng CM, Desnick RJ, Bishop DF.
    Genomics; 1992 Apr 21; 12(4):643-50. PubMed ID: 1315304
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