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...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Nieminen, Taina T., Liyanarachchi, Sandya, Comiskey, Daniel F., Wang, Yanqiang, Li, Wei, Hendrickson, Isabella V., Brock, Pamela, de la Chapelle, Albert, He, Huiling
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2021
Témata:
Clinical Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8172196/
https://ncbi.nlm.nih.gov/pubmed/33943044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1641
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