PMC Links for Nucleotide (Select 362999770) - PMC

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Items: 3

Select item 60505111.

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

Walter HA Kahr, Jesse Hinckley, Ling Li, Hansjörg Schwertz, Hilary Christensen, Jesse W Rowley, Fred G Pluthero, Denisa Urban, Shay Fabbro, Brie Nixon, Rick Gadzinski, Mike Storck, Kai Wang, Gi-Yung Ryu, Shawn M Jobe, Brian C Schutte, Jack Moseley, Noeleen B Loughran, John Parkinson, Andrew S Weyrich, Jorge Di Paola

Nat Genet. Author manuscript; available in PMC 2018 Jul 18.

Published in final edited form as: Nat Genet. 2011 Jul 17; 43(8): 738–740. Published online 2011 Jul 17. doi: 10.1038/ng.884

PMCID:: PMC6050511

Abstract Article PDF–400K

Select item 34289342.

Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome

Cornelis A Albers, Ana Cvejic, Rémi Favier, Evelien E Bouwmans, Marie-Christine Alessi, Paul Bertone, Gregory Jordan, Ross NW Kettleborough, Graham Kiddle, Myrto Kostadima, Randy J Read, Botond Sipos, Suthesh Sivapalaratnam, Peter A Smethurst, Jonathan Stephens, Katrin Voss, Alan Nurden, Augusto Rendon, Paquita Nurden, Willem H Ouwehand

Nat Genet. Author manuscript; available in PMC 2012 Aug 28.

Published in final edited form as: Nat Genet. 2011 Jul 17; 43(8): 735–737. Published online 2011 Jul 17. doi: 10.1038/ng.885

PMCID:: PMC3428934

Abstract Article PDF–1.0M

Select item 31540193.

NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules

Meral Gunay-Aygun, Tzipora C Falik-Zaccai, Thierry Vilboux, Yifat Zivony-Elboum, Fatma Gumruk, Mualla Cetin, Morad Khayat, Cornelius F Boerkoel, Nehama Kfir, Yan Huang, Dawn Maynard, Heidi Dorward, Katherine Berger, Robert Kleta, Yair Anikster, Mutlu Arat, Andrew S Freiberg, Beate E Kehrel, Kerstin Jurk, Pedro Cruz, Jim C Mullikin, James G White, Marjan Huizing, William A Gahl

Nat Genet. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Nat Genet. 2011 Aug; 43(8): 732–734. Published online 2011 Jul 17. doi: 10.1038/ng.883