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...

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Detalles Bibliográficos
Autores principales: Zhao, Ting, Fan, Shanghua, Sun, Liu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
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

Internet

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

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