Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report

Abstract Background Hereditary spherocytosis (HS) is a common inherited red blood cell membrane disorder characterized by an abnormal increase of spherocytes in peripheral blood. SPTB gene mutation is one of the most common causes of HS; however, few cases of HS resulting from SPTB mutation in the C...

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Main Authors: Zhanhui Du (Author), Gang Luo (Author), Kuiliang Wang (Author), Zhen Bing (Author), Silin Pan (Author)
Format: Book
Published: BMC, 2021-06-01T00:00:00Z.
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3rd Floor Main Library

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