Origin and timing of de novo variants implicated in type 2 von Willebrand disease

Very few studies have shown the real origin and timing of de novo variants (DNV) implicated in von Willebrand disease (VWD). We investigated four families with type 2 VWD. First, we conducted linkage analysis using single nucleotide variant genotyping to recognize the possible provenance of DNV. Sec...

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Detalles Bibliográficos
Autores principales: Chen, Ming, Shen, Ming‐Ching, Chang, Shun‐Ping, Ma, Gwo‐Chin, Huang, Ying‐Chih, Lin, Ching‐Yeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9639050/
https://www.ncbi.nlm.nih.gov/pubmed/36226571
http://dx.doi.org/10.1111/jcmm.17563

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