title: Gray platelet syndrome: Novel mutations of the NBEAL2 gene.
authors.affiliation: Department of Medical Sciences, University of Trieste, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Bottega
authors.affiliation: Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Nicchia
authors.affiliation: Maurice Wohl Institute, King's College London, UK.
authors.forename: Caterina
authors.initials: C
authors.lastname: Alfano
authors.affiliation: Instituto de Investigaciones Médicas Alfredo Lanari, Universidad de Buenos Aires, CONICET, Buenos Aires, Argentina.
authors.forename: Ana C
authors.initials: AC
authors.lastname: Glembotsky
authors.affiliation: Maurice Wohl Institute, King's College London, UK.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Pastore
authors.affiliation: Service and Central Laboratory of Hematology, University Hospital of Lausanne (CHUV), Switzerland.
authors.forename: Debora
authors.initials: D
authors.lastname: Bertaggia-Calderara
authors.affiliation: Institute of Pathology, CHUV University Hospital and University of Lausanne, Switzerland.
authors.forename: Bettina
authors.initials: B
authors.lastname: Bisig
authors.affiliation: Service and Central Laboratory of Hematology, University Hospital of Lausanne (CHUV), Switzerland.
authors.forename: Michel A
authors.initials: MA
authors.lastname: Duchosal
authors.affiliation: Hospital Pediátrico Dr. Humberto Notti, Mendoza, Argentina.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Arbesú
authors.affiliation: Service and Central Laboratory of Hematology, University Hospital of Lausanne (CHUV), Switzerland.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Alberio
authors.affiliation: Instituto de Investigaciones Médicas Alfredo Lanari, Universidad de Buenos Aires, CONICET, Buenos Aires, Argentina.
authors.forename: Paula G
authors.initials: PG
authors.lastname: Heller
authors.affiliation: Department of Medical Sciences, University of Trieste, Italy.|Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Savoia
mesh_terms: D000328:Adult; D000483:Alleles; D001798:Blood Proteins / Q000235:genetics*; D002648:Child; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D005838:Genotype; D055652:Gray Platelet Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D010974:Platelet Aggregation; D010976:Platelet Count; D010980:Platelet Membrane Glycoproteins / Q000235:genetics
chemical_list: D001798:Blood Proteins; C561485:NBEAL2 protein, human; D010980:Platelet Membrane Glycoproteins