Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations

Hypophosphatasia (HPP), a genetic disorder characterized by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity, is caused by loss-of-function mutations in the ALPL gene, which encodes TNSALP. The most frequent pathogenic variant in Japanese patients with HPP is a frameshift mutation...

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Detalles Bibliográficos
Autores principales: Kitoh, Hiroshi, Izawa, Masako, Kaneko, Hiroshi, Kitamura, Akiko, Matsuyama, Saori, Kato, Kohji, Ogi, Tomoo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9547180/
https://www.ncbi.nlm.nih.gov/pubmed/36217348
http://dx.doi.org/10.1016/j.bonr.2022.101626

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9547180/
https://www.ncbi.nlm.nih.gov/pubmed/36217348
http://dx.doi.org/10.1016/j.bonr.2022.101626

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