CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in <i>RASGRP2</i>

CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in <i>RASGRP2</i>

<i>RASGRP2</i> encodes the calcium and diacylglycerol (DAG)-regulated guanine nucleotide exchange factor I (CalDAG-GEFI) identified as a Rap1-activating molecule. Pathogenic variants previously identified in <i>RASGRP2</i> allowed the characterization of CalDAG-GEFI deficienc...

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Detalles Bibliográficos
Autores principales: Sara Morais, Mónica Pereira, Catarina Lau, Ana Gonçalves, Catarina Monteiro, Marta Gonçalves, Jorge Oliveira, Lurdes Moreira, Eugénia Cruz, Rosário Santos, Margarida Lima
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
platelets
<i>RASGRP2</i>
CalDAG-GEFI deficiency
platelet function diseases
Biology (General)
QH301-705.5
Chemistry
QD1-999
Acceso en línea:https://doaj.org/article/a405991a6b0f42dc875ca6672994f245
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https://doaj.org/article/a405991a6b0f42dc875ca6672994f245

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