Gray platelet syndrome: Novel mutations of the NBEAL2 gene.

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Serval ID
serval:BIB_4F5F46E612D6
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
UNIL/CHUV
Title
Gray platelet syndrome: Novel mutations of the NBEAL2 gene.
Journal
American journal of hematology
Author(s)
Bottega R., Nicchia E., Alfano C., Glembotsky A.C., Pastore A., Bertaggia-Calderara D., Bisig B., Duchosal M.A., Arbesú G., Alberio L., Heller P.G., Savoia A.
ISSN
1096-8652 (Electronic)
ISSN-L
0361-8609
Publication state
Published
Issued date
02/2017
Peer-reviewed
Oui
Volume
92
Number
2
Pages
E20-E22
Language
english
Notes
Publication types: Case Reports ; Letter ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Keywords
Adult, Alleles, Blood Proteins/genetics, Child, Female, Gene Expression, Gene Frequency, Genotype, Gray Platelet Syndrome/blood, Gray Platelet Syndrome/diagnosis, Gray Platelet Syndrome/genetics, Humans, Male, Mutation, Phenotype, Platelet Aggregation, Platelet Count, Platelet Membrane Glycoproteins/genetics
OAI-PMH
oai:serval.unil.ch:BIB_4F5F46E612D6
DOI
10.1002/ajh.24610
Pubmed
27870194
Web of science
000393425200006
Create date
05/12/2016 21:33
Last modification date
16/12/2023 7:10
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