Adult hypophosphatasia with compound heterozygous...

Journal of Medical Case Reports 2019 / 12 Vol. 13; Iss. 1

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

Fukushima, Kazunori, Kawai-Kowase, Keiko, Yonemoto, Yukio, Fujiwara, Makoto, Sato, Hiroko, Sato, Mahito, Kubota, Takuo, Ozono, Keiichi, Tamura, Junich
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Volume:
13
Journal:
Journal of Medical Case Reports
DOI:
10.1186/s13256-019-2045-4
Date:
December, 2019
File:
PDF, 673 KB
2019
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