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Case series and literature review of primary hyperoxaluria type 1 in Chinese patients
Based on the single-center case reports and all reported patients with primary hyperoxaluria type 1 (PH1) in China, this study discussed the clinical and genetic characteristics of this disease retrospectively. We reported and validated a novel genetic variation c.302 T > G: the clinical phenotyp...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10598140/ https://www.ncbi.nlm.nih.gov/pubmed/37874369 http://dx.doi.org/10.1007/s00240-023-01494-8 |