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Journal Abstract Search

343 related items for PubMed ID: 12416636

  • 21. Hypophosphatasia: molecular diagnosis of Rathbun's original case.
    Mumm S, Jones J, Finnegan P, Whyte MP.
    J Bone Miner Res; 2001 Sep; 16(9):1724-7. PubMed ID: 11547844
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  • 24. Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.
    Yang H, Wang L, Geng J, Yu T, Yao RE, Shen Y, Yin L, Ying D, Huang R, Zhou Y, Chen H, Liu L, Mo X, Shen Y, Fu Q, Yu Y.
    Cell Physiol Biochem; 2013 Sep; 32(3):635-44. PubMed ID: 24022022
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  • 26. An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.
    Sultana S, Al-Shawafi HA, Makita S, Sohda M, Amizuka N, Takagi R, Oda K.
    Mol Genet Metab; 2013 Jul; 109(3):282-8. PubMed ID: 23688511
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  • 34. Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
    Spentchian M, Merrien Y, Herasse M, Dobbie Z, Gläser D, Holder SE, Ivarsson SA, Kostiner D, Mansour S, Norman A, Roth J, Stipoljev F, Taillemite JL, van der Smagt JJ, Serre JL, Simon-Bouy B, Taillandier A, Mornet E.
    Hum Mutat; 2003 Jul; 22(1):105-6. PubMed ID: 12815606
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  • 37. [Congenital hypophosphatasia].
    Terheggen HG, Wischermann A.
    Monatsschr Kinderheilkd; 1984 Jul; 132(7):512-22. PubMed ID: 6147751
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  • 38. [A novel mutation in infant hypophophatasia: a case report].
    Halioui-Louhaïchi S, Ben M'barek S, Ben Hariz M, Ben Farhat L, Briki S, Hendaoui L, Mornet E, Maherzi A.
    Tunis Med; 2007 May; 85(5):433-6. PubMed ID: 17657935
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