أعرض في EDS

Thrombocytopenia with Absent Radii (TAR) syndrome is cause by compound inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A

التفاصيل البيبلوغرافية
العنوان: Thrombocytopenia with Absent Radii (TAR) syndrome is cause by compound inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A
المؤلفون: Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Paul Bertone, Breuning, M. H., Debili, N., Deloukas, P., Favier, R., Fiedler, J., Hobbs, C. M., Huang, N., Hurles, M. E., Kiddle, G., Krapels, I., Nurden, P., Ruivenkamp, C. A. L., Sambrook, J. G., Smith, K., Stemple, D. L., Strauss, G., Thys, C., Geet, C., Newbury-Ecob, R., Ouwehand, W. H., Ghevaert, C.
المصدر: ResearcherID
British Journal of Haematology, 157, 9-9
سنة النشر: 2012
اللغة: English
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4ba8f66fc73a3e965408e45016e3f22e
https://hdl.handle.net/1887/98969
حقوق: CLOSED
رقم الأكسشن: edsair.dedup.wf.001..4ba8f66fc73a3e965408e45016e3f22e
قاعدة البيانات: OpenAIRE
الوصف
الوصف غير متاح.