NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
About this item
Full title
Author / Creator
Gunay-Aygun, Meral , Falik-Zaccai, Tzipora C , Vilboux, Thierry , Zivony-Elboum, Yifat , Gumruk, Fatma , Cetin, Mualla , Khayat, Morad , Boerkoel, Cornelius F , Kfir, Nehama , Huang, Yan , Maynard, Dawn , Dorward, Heidi , Berger, Katherine , Kleta, Robert , Anikster, Yair , Arat, Mutlu , Freiberg, Andrew S , Kehrel, Beate E , Jurk, Kerstin , Cruz, Pedro , Mullikin, Jim C , White, James G , Huizing, Marjan and Gahl, William A
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Meral Gunay-Aygun and colleagues report that
NBEAL2
is mutated in gray platelet syndrome (GPS). GPS is a recessive platelet disorder that can lead to severe bleeding.
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack α-granules. Here we show that mutations in
NBEA...
Alternative Titles
Full title
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
Authors, Artists and Contributors
Author / Creator
Falik-Zaccai, Tzipora C
Vilboux, Thierry
Zivony-Elboum, Yifat
Gumruk, Fatma
Cetin, Mualla
Khayat, Morad
Boerkoel, Cornelius F
Kfir, Nehama
Huang, Yan
Maynard, Dawn
Dorward, Heidi
Berger, Katherine
Kleta, Robert
Anikster, Yair
Arat, Mutlu
Freiberg, Andrew S
Kehrel, Beate E
Jurk, Kerstin
Cruz, Pedro
Mullikin, Jim C
White, James G
Huizing, Marjan
Gahl, William A
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3154019
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3154019
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.883
