Loss of exon identity is a common mechanism of human inherited disease

Genome Research

Volumn 21, Issue 10, 2011, Pages 1563-1571

  Sterne Weiler, Timothy ^a,b   Howard, Jonathan ^a   Mort, Matthew ^c   Cooper, David N ^c   Sanford, Jeremy R ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b University of California Santa Cruz   (United States)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT;

ARTICLE; EXON; GENE MUTATION; GENE SILENCING; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; BETA-GLOBINS; CODON, NONSENSE; COMPUTER SIMULATION; EXONS; GENES, REPORTER; GENETIC DISEASES, INBORN; HELA CELLS; HEREDITY; HUMANS; MODELS, GENETIC; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA SPLICE SITES; RNA SPLICING;

EID: 79960607075     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.118638.110     Document Type: Article

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