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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Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428915/
https://ncbi.nlm.nih.gov/pubmed/22366785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.1083
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