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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.

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第一作者: Roberta,Bottega
第一单位: Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
作者单位: Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste. [1] Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua, Italy; Fondazione Città della Speranza, Istituto di Ricerca Pediatrica, Via Ricerca Scientifica, 4, 35127, Padua. [2] Maternal and Child Department, F. Del Ponte Hospital, Varese. [3] Department of Medical Sciences, University of Trieste, Trieste, Italy; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Barcelona. [4] Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua. [5] LABSIEM - Laboratory for the Study of Inborn Errors of Metabolism, Pediatric Clinic and Endocrinology, Istituto Giannina Gaslini, Genova. [6] Pediatric Department, Hospital of Treviso - Oderzo, Treviso. [7] Biotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia. [8] Biotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; Department of Internal Medicine and Medical Therapy, University of Pavia, Pavia. [9] Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children's Health, University Hospital of Padova, Padova. [10] Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste. [11] King's College London, Dept. of Clinical Neuroscience, Denmark Hill Campus, London, United Kingdom; European Synchrotron Radiation Facility 71, Grenoble. [12] Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste. anna.savoia@burlo.trieste.it. [13]
DOI 10.3324/haematol.2021.279689
PMID 34788986
发布时间 2022-04-01
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Haematologica

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