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Clinical and genetic characteristics of hypophosphatasia in Chinese children
BACKGROUND: Hypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes. Few studies were carried out in the Chinese population with HPP, especially in children. METHODS: Th...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028151/ https://www.ncbi.nlm.nih.gov/pubmed/33827627 http://dx.doi.org/10.1186/s13023-021-01798-1 |