Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation

Next-generation sequencing is increasingly applied during the diagnostic work-up of patients with bleeding diathesis and has facilitated the diagnosis of rare bleeding disorders such as inherited platelet function disorders. Mutations in RAS guanyl releasing protein 2 (RasGRP2), also known as calciu...

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Detalles Bibliográficos
Autores principales: Körholz, Julia, Lucas, Nadja, Boiti, Franziska, Althaus, Karina, Tiebel, Oliver, Fang, Mingyan, Berner, Reinhard, Lee-Kirsch, Min Ae, Knöfler, Ralf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2020
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7762629/
https://www.ncbi.nlm.nih.gov/pubmed/33376940
http://dx.doi.org/10.1055/s-0040-1718910

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7762629/
https://www.ncbi.nlm.nih.gov/pubmed/33376940
http://dx.doi.org/10.1055/s-0040-1718910

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