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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Detalles Bibliográficos
Autores principales: Ravasi, Giulia, Pelucchi, Sara, Bertola, Francesca, Capelletti, Martina Maria, Mariani, Raffaella, Piperno, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8623017/
https://www.ncbi.nlm.nih.gov/pubmed/34828384
http://dx.doi.org/10.3390/genes12111778

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