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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K. Ozono | T. Kubota | Hiroko Sato | Mahito Sato | Y. Yonemoto | Kazunori Fukushima | K. Kawai-Kowase | J. Tamura | M. Fujiwara