Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis.

DISCUSSION: Our finding suggested that a de novo nonsense mutation in ANK1 may be causative to HS which plays an important role in supplementing the mutational spectrum of the ANK1 and explaining the mechanism of HS. Our study also indicated that WES can be an effective and accurate diagnostic tool in the discovery of causative mutations in genetic heterogeneous Mendelian disorders. PMID: 29099659 [PubMed - as supplied by publisher]
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research