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The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
BACKGROUND: Upshaw–Schulman syndrome (USS) is an autosomal recessive disease characterized by thrombotic microangiopathies caused by pathogenic variants in ADAMTS13. We aimed to (1) curate the ADAMTS13 gene pathogenic variant dataset and (2) estimate the carrier frequency and genetic prevalence of U...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8600861/ https://www.ncbi.nlm.nih.gov/pubmed/34789164 http://dx.doi.org/10.1186/s12863-021-01010-0 |