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Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia
Background: Hypophosphatasia (HPP) is an autosomal genetic disorder characterized biochemically by abnormal of bone parameters and serum alkaline phosphatase (ALP) activity as well as clinically by deficiency of teeth and bone mineralization. The clinical presentation is a continuum ranging from a p...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8546181/ https://www.ncbi.nlm.nih.gov/pubmed/34712267 http://dx.doi.org/10.3389/fgene.2021.732621 |