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Journal Abstract Search

294 related items for PubMed ID: 10690885

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  • 3. Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia.
    Ishida Y, Komaru K, Oda K.
    Biochim Biophys Acta; 2011 Mar; 1812(3):326-32. PubMed ID: 21168482
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  • 4. Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.
    Numa-Kinjoh N, Komaru K, Ishida Y, Sohda M, Oda K.
    Mol Genet Metab; 2015 Aug; 115(4):180-5. PubMed ID: 25982064
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  • 5. Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
    Mumm S, Jones J, Finnegan P, Henthorn PS, Podgornik MN, Whyte MP.
    Mol Genet Metab; 2002 Feb; 75(2):143-53. PubMed ID: 11855933
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  • 6. A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
    Watanabe H, Hashimoto-Uoshima M, Goseki-Sone M, Orimo H, Ishikawa I.
    Oral Dis; 2001 Nov; 7(6):331-5. PubMed ID: 11834095
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  • 9. The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia.
    Takinami H, Goseki-Sone M, Watanabe H, Orimo H, Hamatani R, Fukushi-Irie M, Ishikawa I.
    J Med Dent Sci; 2004 Mar; 51(1):67-74. PubMed ID: 15137467
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  • 10. Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia.
    Komaru K, Satou Y, Al-Shawafi HA, Numa-Kinjoh N, Sohda M, Oda K.
    FEBS J; 2016 Mar; 283(6):1168-79. PubMed ID: 26797772
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  • 13. A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.
    Sugimoto N, Iwamoto S, Hoshino Y, Kajii E.
    J Hum Genet; 1998 Mar; 43(3):160-4. PubMed ID: 9747027
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  • 19. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
    Mornet E.
    Hum Mutat; 2000 Mar; 15(4):309-15. PubMed ID: 10737975
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  • 20. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
    Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP.
    Proc Natl Acad Sci U S A; 1992 Oct 15; 89(20):9924-8. PubMed ID: 1409720
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