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...
| প্রধান লেখক: | , , , , , , , , |
|---|---|
| বিন্যাস: | প্রবন্ধ |
| ভাষা: | English |
| প্রকাশিত: |
Wiley
2021-05-01
|
| মালা: | Molecular Genetics & Genomic Medicine |
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://doi.org/10.1002/mgg3.1641 |