Ontology highlight
ABSTRACT:
SUBMITTER: Hao L
PROVIDER: S-EPMC6533472 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Hao Lili L Li Shanshan S Ma Duan D Chen Shiyu S Zhang Bowen B Xiao Deyong D Zhang Jin J Jiang Nan N Jiang Shayi S Ma Jing J
Journal of cellular and molecular medicine 20190423 6
Hereditary spherocytosis (HS) is the most common inherited haemolytic anaemia disorder. ANK1 mutations account for most HS cases, but pathogenicity analysis and functional research have not been widely performed for these mutations. In this study, in order to confirm diagnosis, gene mutation was screened in two unrelated Chinese families with HS by a next-generation sequencing (NGS) panel and then confirmed by Sanger sequencing. Two novel heterozygous mutations (c.C841T, p.R281X and c.T290G, p.L ...[more]