Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis
Author:
Affiliation:
1. Department of Cell Biology; The School of Life Sciences, Central South University; Changsha China
2. Department of Nephrology; The Third Xiangya Hospital of Central South University; Changsha China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics(clinical),Drug Discovery,Genetics,Molecular Biology,Molecular Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/jgm.3073/fullpdf
Reference24 articles.
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2. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders;Da Costa;Blood Rev,2013
3. Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism;Wang;Haematologica,2018
4. General Haematology task force of the British Committee for Standards in H. Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update;Bolton-Maggs;Br J Haematol,2012
5. Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing;He;Gene,2017
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