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Pedro Ruiz-Sala
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Journal Articles

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

Ana Marín-Quílez, Christian Andrea Di Buduo, Lorena Díaz-Ajenjo, Vittorio Abbonante, Elena Vuelta, Paolo Maria Soprano, Cristina Miguel-García, Sandra Santos-Mínguez, Inmaculada Serramito-Gómez, Pedro Ruiz-Sala, María Jesús Peñarrubia, Emilia Pardal, Jesús María Hernández-Rivas, José Ramón González-Porras, Ignacio García-Tuñón, Rocío Benito, José Rivera, Alessandra Balduini, José María Bastida
Journal: Blood
Blood (2023) 141 (4): 406–421.
https://doi.org/10.1182/blood.2022016995
Published: 2023
Includes: Supplemental data
Journal Articles

Identification By Whole Exome Sequencing of the Molecular Defect in a Novel Gene Related to Glycosylation in Two Unrelated Families with Syndromic Macrothrombocytopenia

Ana Marín-Quílez, Elena Vuelta, Sandra Santos-Mínguez, Cristina Miguel-García, Pedro Ruíz-Sala, Veronica Palma-Barqueros, Lorena Díaz-Ajenjo, Inmaculada Serramito-Gómez, Maria Jesús Peñarrubia, Emilia Pardal, Daisy Castiñeiras-Ramos, José Ramón González-Porras, Jose Rivera, Rocio Benito, Jesus Maria Hernández-Rivas, Ignacio García-Tuñón, Jose Maria Bastida
Journal: Blood
Blood (2021) 138 (Supplement 1): 588.
https://doi.org/10.1182/blood-2021-150765
Published: 2021