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Journal Abstract Search

216 related items for PubMed ID: 11834095

  • 1. 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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  • 3. Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia.
    Watanabe H, Takinami H, Goseki-Sone M, Orimo H, Hamatani R, Ishikawa I.
    Biochem Biophys Res Commun; 2005 Feb 04; 327(1):124-9. PubMed ID: 15629439
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  • 8. Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations.
    Henthorn PS, Whyte MP.
    Prenat Diagn; 1995 Nov 04; 15(11):1001-6. PubMed ID: 8606878
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  • 13. Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.
    Taillandier A, Zurutuza L, Muller F, Simon-Bouy B, Serre JL, Bird L, Brenner R, Boute O, Cousin J, Gaillard D, Heidemann PH, Steinmann B, Wallot M, Mornet E.
    Hum Mutat; 1999 Nov 04; 13(2):171-2. PubMed ID: 10094560
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  • 14. Clinical, pathological and genetic evaluations of Chinese patients with autosomal-dominant hypophosphatasia.
    Wei KW, Xuan K, Liu YL, Fang J, Ji K, Wang X, Jin Y, Watanabe S, Watanabe K, Ojihara T.
    Arch Oral Biol; 2010 Dec 04; 55(12):1017-23. PubMed ID: 20828673
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  • 16. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
    Taillandier A, Lia-Baldini AS, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre JL, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre AG, Körtge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple IK, Viot G, Mornet E.
    Hum Mutat; 2001 Dec 04; 18(1):83-4. PubMed ID: 11438998
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  • 20. 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 04; 115(4):180-5. PubMed ID: 25982064
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