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

Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder characterized by a mild thrombocytopenia with large platelets and a paucity of α-granules; these abnormalities cause mostly moderate but in rare cases severe bleeding. We sequenced the exomes of four unrelated cases and iden...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Albers, Cornelis A, Cvejic, Ana, Favier, Rémi, Bouwmans, Evelien E, Alessi, Marie-Christine, Bertone, Paul, Jordan, Gregory, Kettleborough, Ross NW, Kiddle, Graham, Kostadima, Myrto, Read, Randy J, Sipos, Botond, Sivapalaratnam, Suthesh, Smethurst, Peter A, Stephens, Jonathan, Voss, Katrin, Nurden, Alan, Rendon, Augusto, Nurden, Paquita, Ouwehand, Willem H
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2011
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428934/
https://ncbi.nlm.nih.gov/pubmed/21765411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.885
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