Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mut...
Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report
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England: BioMed Central Ltd
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English
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Publisher
England: BioMed Central Ltd
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Hypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL. Clinically, hypophosphatasia can be categorized as perinatal, infantile, childhood, and adult forms, as well as odonto-hypophosphatasia, according to the age at first sign or dental manifestations. Adult hypophosphatasia typically prese...
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Full title
Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_0f6c85a1e6274fb886e71a94995499c4
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0f6c85a1e6274fb886e71a94995499c4
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ISSN
1752-1947
E-ISSN
1752-1947
DOI
10.1186/s13256-019-2045-4
