Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2011 Mar;19(3).
doi: 10.1038/ejhg.2010.170. Epub 2010 Oct 27.

Clinical utility gene card for: hypophosphatasia

Etienne Mornet  1 , Christine Beck, Agnès Bloch-Zupan, Hermann Girschick, Martine Le Merrer
Affiliations

Clinical utility gene card for: hypophosphatasia

Etienne Mornet et al. Eur J Hum Genet. 2011 Mar.
No abstract available

PubMed Disclaimer

References

    1. Zurutuza L, Muller F, Gibrat JF, et al. Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet. 1999;8:1039–1046. - PubMed
    1. Muller HL, Yamazaki M, Michigami T, et al. Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J Clin Endocrinol Metab. 2000;85:743–747. - PubMed
    1. Lia-Baldini AS, Muller F, Taillandier A, et al. A molecular approach to dominance in hypophosphatasia. Hum Genet. 2001;109:99–108. - PubMed
    1. Lia-Baldini AS, Brun-Heath I, Carrion C, et al. A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. Hum Genet. 2008;123:429–432. - PubMed
    1. Fauvert D, Brun-Heath I, Lia-Baldini AS, et al. Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet. 2009;10:51. - PMC - PubMed

Publication types