Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Nature Genetics

Volumn 44, Issue 4, 2012, Pages 435-439

  Albers, Cornelis A ^a,b,c   Paul, Dirk S ^c   Schulze, Harald ^d   Freson, Kathleen ^e   Stephens, Jonathan C ^a,b   Smethurst, Peter A ^a,b   Jolley, Jennifer D ^a,b   Cvejic, Ana ^a,b,c   Kostadima, Myrto ^f   Bertone, Paul ^f   Breuning, Martijn H ^g   Debili, Najet ^h   Deloukas, Panos ^c   Favier, Rëmi ^h   Fiedler, Janine ^d,i   Hobbs, Catherine M ^a,b   Huang, Ni ^c   Hurles, Matthew E ^c   Kiddle, Graham ^a,b   Krapels, Ingrid ^j   Nurden, Paquita ^k   Ruivenkamp, Claudia A L ^g   Sambrook, Jennifer G ^a,b   Smith, Kenneth ^l,m   Stemple, Derek L ^c   Strauss, Gabriele ^d   Thys, Chantal ^e   Van Geet, Chris ^e,n   Newbury Ecob, Ruth ^l,m   Ouwehand, Willem H ^a,b,c   Ghevaert, Cedric ^a,b   more..

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b NHS BLOOD AND TRANSPLANT   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e UNIVERSITY OF LEUVEN   (Belgium)

^f EUROPEAN BIOINFORMATICS INSTITUTE   (United Kingdom)

^g LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^h INSERM   (France)

ⁱ FREIE UNIVERSITÄT BERLIN   (Germany)

^j MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^k Ctr Geriatrie Ctr Hosp Univ B   (France)

^l UNIVERSITY OF BRISTOL   (United Kingdom)

^m ST MICHAEL'S HOSPITAL   (United Kingdom)

ⁿ UNIVERSITY HOSPITALS LEUVEN   (Belgium)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; RBM8A PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME DELETION; EXON; EXON JUNCTION COMPLEX; FRAMESHIFT MUTATION; FRAMESHIFT NULL MUTATION; GENE EXPRESSION; GENETIC TRANSCRIPTION; HUMAN; IN VITRO STUDY; NONHUMAN; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE; THROMBOCYTOPENIA; THROMBOCYTOPENIA WITH ABSENT RADIUS SYNDROME;

5' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PLATELET COUNT; POLYMORPHISM, SINGLE NUCLEOTIDE; RADIUS; RNA-BINDING PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; THROMBOCYTOPENIA; UPPER EXTREMITY DEFORMITIES, CONGENITAL; YOUNG ADULT; ZEBRAFISH;

EID: 84863393160     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.1083     Document Type: Article

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