Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction com...
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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Full title
Author / Creator
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 and Ghevaert, Cedric
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Cornelis Albers, Cedric Ghevaert and colleagues report that a majority of thrombocytopenia with absent radii (TAR) syndrome cases are caused by compound heterzygosity of a null allele and a low-frequency SNP in the regulatory regions of the
RBM8A
gene, which encodes the Y14 subunit of the exon-junction complex (EJC). TAR syndrome is the first...
Alternative Titles
Full title
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_963491229
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_963491229
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.1083
