A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3

Human Genetics

Volumn 115, Issue 2, 2004, Pages 139-148

  Tonkin, Emma T ^a   Smith, Melanie ^a,d   Eichhorn, Piet ^a,e   Jones, Sandie ^a   Imamwerdi, Burhan ^a   Lindsay, Susan ^a   Jackson, Mike ^a   Wang, Tzu Jou ^a   Ireland, Maggie ^a   Burn, John ^a   Krantz, Ian D ^b   Carr, Philippa ^c   Strachan, Tom ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d Serono International SA   (Switzerland)

^e NETHERLANDS CANCER INSTITUTE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; COMPLEMENTARY DNA; DIPEPTIDASE; ISOPROTEIN; METHIONINE; PROTEIN NAALADL2; RNA; TRANSFERRIN RECEPTOR; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ACETYLATION; ALTERNATIVE RNA SPLICING; AMINO TERMINAL SEQUENCE; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 3Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION 3; CLINICAL ARTICLE; CODON; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DE LANGE SYNDROME; DENSITY; DNA MICROARRAY; DUODENUM; EMBRYO; EMBRYONIC STRUCTURES; ENDODERM; EXON; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC SCREENING; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; KIDNEY; MESONEPHROS; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PANCREAS; PATHOGENESIS; PHENOTYPE; PLACENTA; POLYADENYLATION; PREDICTION; PRIORITY JOURNAL; SAMPLING; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; STOMACH; TRISOMY;

BACTERIA (MICROORGANISMS);

EID: 3543047320     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1134-6     Document Type: Article

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