Article

A novel SPTB gene mutation in neonatal hereditary spherocytosis: a case report and literature review

2019-08-28

Abstract excerpt

<h4>Background: </h4> To enhance our understanding on the diagnosis and treatment of neonatal hereditary spherocytosis (HS). <h4>Methods:</h4> We summarized the clinical data and gene test results of a neonatal HS caused by a new mutation of SPTB gene. Meanwhile, a comprehensive literature review was performed. Gene sequencing and analysis was carried out for the crucial splicing signals on the exons and introns o...

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Literature Corpus work: 5172b8ee-60d2-506d-ba87-ed5f71106b77
DOI: 10.21203/rs.2.10866/v1

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