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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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2015
Assuntos:
PNAS Plus
Acesso em linha: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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