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G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Gehring B, Mornet E, Plath H, Hansmann M, Bartmann P, Brenner RE (1999) Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family. Clin Genet 56: 313-317.

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  • Greenberg CR, Taylor CLD, Haworth JC, et al. (1993) A homoallelic Gly317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics 17: 215-217.

    Google Scholar 

  • Whyte MP (2001) Hypophosphatasia. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn, vol. 4. New York: McGraw-Hill, 5313-5329.

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Authors and Affiliations

  1. Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan

    H. Orimo & T. Shimada

  2. Department of Pediatrics, University of Munich, Munich, Germany

    Y. S. Shin

Authors
  1. H. Orimo
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  2. Y. S. Shin
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  3. T. Shimada
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Correspondence to H. Orimo.

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Orimo, H., Shin, Y.S. & Shimada, T. G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family. J Inherit Metab Dis 25, 601–602 (2002). https://doi.org/10.1023/A:1022055710295

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  • DOI: https://doi.org/10.1023/A:1022055710295

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