Article: Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

Authors:

• Marín-Quilez A
• Di Buduo CA
• Díaz-Ajenjo L
• Abbonante V
• Vuelta E
• Soprano PMM
• Miguel-García C
• Santos-Mínguez S
• Serramito-Gómez I
• Ruiz-Sala P
• Peñarrubia MJ
• Pardal E
• Hernández-Rivas JM
• González-Porras JR
• García-Tuñón I
• Benito R
• Rivera J
• Balduini A
• Bastida JM

Direct Links:

DOI: 10.1182/blood.2022016995

Other Data:

2022 Nov 17, Blood

https://pubmed.ncbi.nlm.nih.gov/36395340/