Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR

The exon-junction complex (EJC) performs essential RNA processing tasks(1-5). Here, we describe the first human disorder, Thrombocytopenia with Absent Radii(6) (TAR), caused by deficiency in one of the four EJC subunits. A compound inheritance mechanism of a rare null allele and one of two low-frequ...

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Detalles Bibliográficos
Autores principales: Albers, Cornelis A, Paul, Dirk S, Schulze, Harald, Freson, Kathleen, Stephens, Jonathan C, Smethurst, Peter A, Jolley, Jennifer D, Cvejic, Ana, Kostadima, Myrto, Bertone, Paul, Breuning, Martijn H, Debili, Najet, Deloukas, Panos, Favier, Rémi, Fiedler, Janine, Hobbs, Catherine M, Huang, Ni, Hurles, Matthew E, Kiddle, Graham, Krapels, Ingrid, Nurden, Paquita, Ruivenkamp, Claudia A L, Sambrook, Jennifer G, Smith, Kenneth, Stemple, Derek L, Strauss, Gabriele, Thys, Chantal, van Geet, Christel, Newbury-Ecob, Ruth, Ouwehand, Willem H, Ghevaert, Cedric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428915/
https://www.ncbi.nlm.nih.gov/pubmed/22366785
http://dx.doi.org/10.1038/ng.1083

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