A novel missense variant in the
RASGRP2 gene
Bleeding disorder
missense
mutation
platelet-type bleeding disorder-18
Journal
Platelets
ISSN: 1369-1635
Titre abrégé: Platelets
Pays: England
ID NLM: 9208117
Informations de publication
Date de publication:
03 Jul 2020
03 Jul 2020
Historique:
entrez:
2
7
2020
pubmed:
2
7
2020
medline:
9
2
2021
Statut:
ppublish
Résumé
Inherited platelet function disorder-18 (IPD-18) is a relatively new non-syndromic autosomal recessive bleeding disorder. It is characterized by deficient or dysfunctional CalDAG-GEFI protein. The distinctive feature of the disease is impaired platelet aggregation in response to multiple physiologic agonists. We here report a family with a platelet-type bleeding disorder and a novel mutation in the
Identifiants
pubmed: 32609603
doi: 10.1080/09537104.2019.1663803
doi:
Substances chimiques
Guanine Nucleotide Exchange Factors
0
RASGRP2 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM