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...

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Detalles Bibliográficos
Autores principales: Fukushima, Kazunori, Kawai-Kowase, Keiko, Yonemoto, Yukio, Fujiwara, Makoto, Sato, Hiroko, Sato, Mahito, Kubota, Takuo, Ozono, Keiichi, Tamura, Junich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
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

Internet

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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