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...
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| Auteurs principaux: | , , , , , |
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| Format: | article |
| Langue: | EN |
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MDPI AG
2021
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| Accès en ligne: | https://doaj.org/article/e38685ca5f954ce69e9b25c24410c721 |
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