Combined effects of two mutations in von Willebrand disease 2M phenotype

ESSENTIALS: Compound heterozygosity causes a VWD2M phenotype in a child with severe bleeding symptoms. p.P1648fs*45 changes the folding of A2 domain altering VWF binding to GPIbα and type VI collagen. p.P1648fs*45 was considered as an apparent de novo mutation; AS‐PCR revealed paternal mosaicism. Bl...

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Detalles Bibliográficos
Autores principales: Woods, Adriana I., Paiva, Juvenal, Kempfer, Ana C., Primrose, Debora M., Blanco, Alicia N., Sanchez‐Luceros, Analía, Lazzari, María A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles: Haemostasis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868045/
https://www.ncbi.nlm.nih.gov/pubmed/30046717
http://dx.doi.org/10.1002/rth2.12067

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868045/
https://www.ncbi.nlm.nih.gov/pubmed/30046717
http://dx.doi.org/10.1002/rth2.12067

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