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: | , , , , |
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| Format: | Book |
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BMC,
2021-06-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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