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Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia
Background. Several inherited diseases cause hyperferritinemia with or without iron overload. Differential diagnosis is complex and requires an extensive work-up. Currently, a clinical-guided approach to genetic tests is performed based on gene-by-gene sequencing. Although reasonable, this approach...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8623017/ https://www.ncbi.nlm.nih.gov/pubmed/34828384 http://dx.doi.org/10.3390/genes12111778 |