A novel essential splice site variant in SPTB in a large hereditary spherocytosis family

A novel essential splice site variant in SPTB in a large hereditary spherocytosis family

Abstract Background We studied a large family with 22 individuals affected with autosomal dominant hereditary spherocytosis (HS). Methods Genome‐wide linkage, whole‐genome sequencing (WGS), Sanger sequencing, RT‐PCR, and ToPO TA cloning analyses were performed. Results We revealed a heterozygous G&g...

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Bibliographic Details
Main Authors: Taina T. Nieminen, Sandya Liyanarachchi, Daniel F. Comiskey Jr., Yanqiang Wang, Wei Li, Isabella V. Hendrickson, Pamela Brock, Albert de laChapelle, Huiling He
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
DNA variant
hereditary spherocytosis
splicing
SPTB
Online Access:https://doi.org/10.1002/mgg3.1641

Internet

https://doi.org/10.1002/mgg3.1641

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