Suggestions

Du même auteur

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.

Archive ouverte | Poggi, Marjorie | CCSD

International audience. Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematolog...

Human CalDAG-GEFI gene ( RASGRP2 ) mutation affects platelet function and causes severe bleeding

Archive ouverte | Canault, Matthias | CCSD

International audience. The nature of an inherited platelet disorder was investigated in three siblings affected by severe bleeding. Using whole-exome sequencing, we identified the culprit mutation (cG742T) in the R...

Heterozygous mutations of the integrin αIIbR995/β3D723 intracytoplasmic salt bridge cause macrothrombocytopenia, platelet functional defects and enlarged α-granules

Archive ouverte | Favier, Marie | CCSD

International audience. Rare gain‐of‐function mutations within the ITGA2B or ITGB3 genes have been recognized to cause macrothrombocytopenia (MTP). Here we report three new families with autosomal dominant (AD) MTP,...

Chargement des enrichissements...