Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identificat...
Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Hypophosphatasia (HPP) is a genetic disease caused by one or several mutations in ALPL gene encoding the tissue-nonspecific alkaline phosphatase affecting the mineralization process. Due to its low prevalence and lack of recognition, this metabolic disorder is generally confused with other more frequent bone disorders. An assessment of serum total...
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Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6606844
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6606844
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-019-46004-2