Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.


The aim of this study was to describe the mutational characteristics in Korean hereditary spherocytosis (HS) patients. Relevant literatures including genetically confirmed cases with well-documented clinical summaries and relevant information were also reviewed to investigate the mutational gene- or domain-specific laboratory and clinical association… (More)
DOI: 10.1111/cge.12749



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@article{Park2016MutationalCO, title={Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.}, author={J. Park and D. G. Jeong and J. Yoo and W. Jang and H. Chae and J Kim and Andrew T. Kwon and H. Choi and J. W. Lee and N H Chung and M Kim and Y. Kim}, journal={Clinical genetics}, year={2016}, volume={90 1}, pages={69-78} }