Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines

In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier and prenatal diagnosis and prediction of risk for the development of inhibitors. The PedNet Registry collects clinical, genetic, and phenotypic data prospectively on more than 2000 children with hemophilia. The genetic re...

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Detalles Bibliográficos
Autores principales: Andersson, Nadine G., Labarque, Veerle, Letelier, Anna, Mancuso, Maria Elisa, Bührlen, Martina, Fischer, Kathelijn, Kartal‐Kaess, Mutlu, Koskenvuo, Minna, Mikkelsen, Torben, Ljung, Rolf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Databases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7756260/
https://www.ncbi.nlm.nih.gov/pubmed/32935414
http://dx.doi.org/10.1002/humu.24117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7756260/
https://www.ncbi.nlm.nih.gov/pubmed/32935414
http://dx.doi.org/10.1002/humu.24117

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