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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...
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| הוצא לאור ב: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
John Wiley and Sons Inc.
2021
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| נושאים: | |
| גישה מקוונת: | 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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