Article
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.
European journal of haematology - 1 Mar 2017
Lanktree Matthew B, Sadikovic Bekim, Waye John S, Levstik Alexander, Lanktree Bruce B, Yudin Jovana, Crowther Mark A, Pare Guillaume, Adams Paul C
Abstract excerpt
BACKGROUND: Next-generation sequencing of an iron metabolism gene panel could identify pathogenic mutations, improving on standard hemochromatosis genetic testing and providing a molecular diagnosis in patients with suspected iron overload. METHODS: A next-generation sequencing panel of 15 genes with known roles in iron metabolism was constructed. A total of 190 patients were sequenced: 94 from a tertiary...
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