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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome |
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| 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 Chris Newbury-Ecob Ruth Ouwehand Willem H Ghevaert Cedric |
| Affiliation: | Department of Haematology, University of Cambridge, Cambridge, UK. caa@sanger.ac.uk |
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| 本文献已被 PubMed 等数据库收录！ | |