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5. Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report. Fukushima K, Kawai-Kowase K, Yonemoto Y, Fujiwara M, Sato H, Sato M, Kubota T, Ozono K, Tamura J. J Med Case Rep; 2019 Apr 24; 13(1):101. PubMed ID: 31014398 [Abstract] [Full Text] [Related]
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11. Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. Henthorn PS, Whyte MP. Clin Chem; 1992 Dec 24; 38(12):2501-5. PubMed ID: 1360878 [Abstract] [Full Text] [Related]
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14. Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model. Uday S, Matsumura T, Saraff V, Saito S, Orimo H, Högler W. Bone; 2019 Oct 24; 127():9-16. PubMed ID: 31146036 [Abstract] [Full Text] [Related]
16. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Mornet E. Hum Mutat; 2000 Oct 24; 15(4):309-15. PubMed ID: 10737975 [Abstract] [Full Text] [Related]