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Title: 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
Authors: Albers, C. A
Paul, D. S
Schulze, H
Freson, Kathleen
Stephens, J. C
Smethurst, P. A
Jolley, J. D
Cvejic, A
Kostadima, M
Bertone, P
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
Van Geet, Chris
Newbury-Ecob, R
Ouwehand, W. H
Ghevaert, C
Issue Date: 2012
Publisher: Blackwell Scientific Publications
Host Document: British Journal of Haematology vol:157 pages:9-9
Conference: 52nd Annual Scientific Meeting of the British-Society-for-Haematology location:Glasgow: ENGLAND date:APR 16-18, 2012
ISSN: 0007-1048
Publication status: published
KU Leuven publication type: IMa
Appears in Collections:Molecular and Vascular Biology

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