A Novel De Novo Heterozygous ALPL Nonsense Mutation Associated with Adult Hypophosphatasia

SUMMARY: Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by genetic alterations of the alkaline phosphatase (ALPL) gene, encoding the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). The purpose of this study was to perform a clinical and molecular investigation in a...

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Publicado no:Osteoporos Int
Main Authors: Martins, Luciane, dos Santos, Elis Lira, de Almeida, Amanda B., Machado, Renato A., Lyrio, André M., Foster, Brian L., Kantovitz, Kamila R., Coletta, Ricardo D., Nociti, Francisco H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8214176/
https://ncbi.nlm.nih.gov/pubmed/32572521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00198-020-05490-1
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