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Journal Abstract Search

90 related items for PubMed ID: 7860078

  • 1. Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages.
    Tomatsu S, Fukuda S, Uchiyama A, Hori T, Nakashima Y, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T.
    Hum Genet; 1995 Feb; 95(2):243-4. PubMed ID: 7860078
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  • 3. Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
    Ogawa T, Tomatsu S, Fukuda S, Yamagishi A, Rezvi GM, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orü T.
    Hum Mol Genet; 1995 Mar; 4(3):341-9. PubMed ID: 7795586
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  • 6. Polymerase chain reaction detection of a novel human KIT (mast/stem cell growth factor receptor) gene polymorphism by single-strand conformation polymorphism analysis or by SmaI or BstNI cleavage.
    Spritz RA, Holmes SA.
    Hum Genet; 1993 Sep; 92(2):208-9. PubMed ID: 7690341
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  • 7. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
    Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N, Isogai K, Yamagishi A, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Sly WS, Orii T.
    Hum Mutat; 1997 Sep; 10(5):368-75. PubMed ID: 9375852
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  • 9. Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
    Fukuda S, Tomatsu S, Masue M, Sukegawa K, Iwata H, Ogawa T, Nakashima Y, Hori T, Yamagishi A, Hanyu Y.
    J Clin Invest; 1992 Sep; 90(3):1049-53. PubMed ID: 1522213
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  • 10. A common Ser/Thr polymorphism in the perforin-homologous region of human complement component C7.
    Dewald G, Nöthen MM, Rüther K.
    Hum Hered; 1994 Sep; 44(6):301-4. PubMed ID: 7860081
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  • 11. Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
    Cole DE, Fukuda S, Gordon BA, Rip JW, LeCouteur AN, Rupar CA, Tomatsu S, Ogawa T, Sukegawa K, Orii T.
    Am J Med Genet; 1996 Jun 28; 63(4):558-65. PubMed ID: 8826435
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  • 12. Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
    Petry MF, Nonemacher K, Sebben JC, Schwartz IV, Azevedo AC, Burin MG, de Rezende AR, Kim CA, Giugliani R, Leistner-Segal S.
    J Inherit Metab Dis; 2005 Jun 28; 28(6):1027-34. PubMed ID: 16435196
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  • 14. Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
    Fukuda S, Tomatsu S, Masuno M, Ogawa T, Yamagishi A, Rezvi GM, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Imaizumi K, Kuroki Y, Okabe T, Orii T.
    Hum Mutat; 1996 Jun 28; 7(2):123-34. PubMed ID: 8829629
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  • 15. Primers for detection of StuI and BstXI polymorphisms in a fragment co-amplified with c-Ki-ras 2 (KRAS2).
    Heighway J.
    Nucleic Acids Res; 1991 Jun 11; 19(11):3162. PubMed ID: 2057380
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  • 16. Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population.
    Iwata H, Tomatsu S, Fukuda S, Uchiyama A, Rezvi GM, Ogawa T, Hori T, Nakashima Y, Yamagishi A, Sukegawa K.
    Hum Genet; 1995 Mar 11; 95(3):257-64. PubMed ID: 7532616
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  • 17. A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene.
    Tuffery S, Demaille J, Claustress M.
    Hum Mutat; 1992 Mar 11; 1(3):221-3. PubMed ID: 1301928
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  • 19. Single nucleotide polymorphisms in the ovine casein genes detected by polymerase chain reaction-single strand conformation polymorphism.
    Ceriotti G, Chessa S, Bolla P, Budelli E, Bianchi L, Duranti E, Caroli A.
    J Dairy Sci; 2004 Aug 11; 87(8):2606-13. PubMed ID: 15328285
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  • 20. Linkage mapping of the tumor necrosis factor receptor 2 (TNFR2) gene to 1p36.2 using the single-strand conformation polymorphism technique.
    Kaufman BA, White PS, Steinbrueck T, Donis-Keller H, Brodeur GM.
    Hum Genet; 1994 Oct 11; 94(4):418-22. PubMed ID: 7927340
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