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Article

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

Hematology (Amsterdam, Netherlands) - 1 Jul 2018

Guan Hongzai, Liang Xinping, Zhang Rong, Wang Haiyan, Liu Wenmiao, Zhang Ru, Yang Jie, Liu Shiguo

Abstract excerpt

OBJECTIVES: Hereditary spherocytosis (HS) is a genetic heterogeneous disorder characterized by sphere-shaped erythrocytes on peripheral blood smear with a few clinical manifestations. As an important red cell membrane protein, ankyrin 1 can interact with transmembrane proteins and the membrane skeleton and mutations in the ankyrin 1 (ANK1) genes affect about half of all patients with HS. The purpose of this study...

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Source

Identifiers

PMID: 29099659
DOI: 10.1080/10245332.2017.1398210

Genes

ANK1

Provenance

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