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

Journal article

C.A Albers, D Paul, H Schulze, K Freson, J.C Stephens, P.A Smethurst, J.D Jolley, A Cvejic, M Kostadima, P Bertone, …

British Journal of Haematology, Vol.157, pp.9-9

30/04/2012

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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
Creators - without role: C.A Albers
D Paul
H Schulze
K Freson
J.C Stephens
P.A Smethurst
J.D Jolley
A Cvejic
M Kostadima
P Bertone
M.H Breuning
N Debili
P Deloukas
R Favier
J Fiedler
C.M Hobbs
N Huang
M.E Hurles
G Kiddle
I Krapels
P Nurden
C.A.L Ruivenkamp
J.G Sambrook
K Smith
D.L Stemple
G Strauss
C Thys
C. van Geet
R Newbury-Ecob
W.H Ouwehand
C Ghevaert
Publication Details: British Journal of Haematology, Vol.157, pp.9-9
Identifiers: 9939768008331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article