De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing

• Main Authors: Yang Wang (Author), Lan Huang (Author), Yao Zhu (Author), Xizhou An (Author), Jiacheng Li (Author), Jiangwei Zhen (Author), Jie Yu (Author)
• Format: Book
• Published: BMC, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background and aims Hereditary spherocytosis (HS) is one of the most common hereditary haemolytic disorders. Here, two unrelated families with the probands displaying typical manifestations of HS were enrolled. Our study aimed to characterize the effect of two novel variants in HS patients...