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Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis

1 Oct 2019

Abstract excerpt

BACKGROUND: The present study aimed to use the targeted capture and sequencing technique to diagnose adult hereditary spherocytosis (HS). These results were compared with clinical features and laboratory examinations to explore the diagnosis of HS. METHODS: Whole blood and clinical data from ten patients with HS were collected. Genomic DNA was extracted, and a library was prepared. Exomes of patients with ten...

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PMID: 31807509
DOI: 10.21037/atm.2019.09.163

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