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A novel essential splice site variant in SPTB in a large hereditary spherocytosis family
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>A tr...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172196/ https://www.ncbi.nlm.nih.gov/pubmed/33943044 http://dx.doi.org/10.1002/mgg3.1641 |