αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

Next-generation sequencing is transforming our understanding of human genetic variation but assessing the functional impact of novel variants presents challenges. We analyzed missense variants in the integrin αIIbβ3 receptor subunit genes ITGA2B and ITGB3 identified by whole-exome or -genome sequenc...

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Publicat a:Proc Natl Acad Sci U S A
Autors principals: Buitrago, Lorena, Rendon, Augusto, Liang, Yupu, Simeoni, Ilenia, Negri, Ana, Filizola, Marta, Ouwehand, Willem H., Coller, Barry S., Alessi, Marie-Christine, Ballmaier, Matthias, Bariana, Tadbir, Bellissimo, Daniel, Bertoli, Marta, Bray, Paul, Bury, Loredana, Carrell, Robin, Cattaneo, Marco, Collins, Peter, French, Deborah, Favier, Remi, Freson, Kathleen, Furie, Bruce, Germeshausen, Manuela, Ghevaert, Cedric, Gomez, Keith, Goodeve, Anne, Gresele, Paolo, Guerrero, Jose, Hampshire, Dan J., Hadinnapola, Charaka, Heemskerk, Johan, Henskens, Yvonne, Hill, Marian, Hogg, Nancy, Johnsen, Jill, Kahr, Walter, Kerr, Ron, Kunishima, Shinji, Laffan, Michael, Natwani, Amit, Neerman-Arbez, Marguerite, Nurden, Paquita, Nurden, Alan, Ormiston, Mark, Othman, Maha, Ouwehand, Willem, Perry, David, Vilk, Shoshana Ravel, Reitsma, Pieter, Rondina, Matthew, Smethurst, Peter, Stephens, Jonathan, Stevenson, William, Szkotak, Artur, Turro, Ernest, Van Geet, Christel, Vries, Minka, Ward, June, Waye, John, Westbury, Sarah, Whiteheart, Sidney, Wilcox, David, Zhang, Bi
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2015
Matèries:
PNAS Plus
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4403182/
https://ncbi.nlm.nih.gov/pubmed/25827233
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1422238112
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