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Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report
BACKGROUND: 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...
Autores principales: | Fukushima, Kazunori, Kawai-Kowase, Keiko, Yonemoto, Yukio, Fujiwara, Makoto, Sato, Hiroko, Sato, Mahito, Kubota, Takuo, Ozono, Keiichi, Tamura, Junich |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6480864/ https://www.ncbi.nlm.nih.gov/pubmed/31014398 http://dx.doi.org/10.1186/s13256-019-2045-4 |
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