Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

Human Mutation

Volumn 30, Issue 9, 2009, Pages 1355-1364

  Magyar, István ^a   Colman, Dvora ^a   Arnold, Eliane ^a,b   Baumgartner, Daniela ^c   Bottani, Armand ^d   Fokstuen, Siv ^d   Addor, Marie Claude ^e   Berger, Wolfgang ^a   Carrel, Thierry ^f   Steinmann, Beat ^b   Mátyás, Gábor ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^e LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^f BERN UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Fibrillin 1; Marfan syndrome; Nonsense mutation; Nonsense mediated mRNA decay; PAXgene blood system; Quantitative sequencing; Transcripts in blood

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ARTICLE; BLOOD SAMPLING; CODON; CONTROLLED STUDY; FBN1 GENE; FIBROBLAST; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LEUKOCYTE; NUCLEOTIDE SEQUENCE; PAX GENE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RNA ANALYSIS; SEQUENCE ANALYSIS;

ALLELES; BASE SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; GENETIC VARIATION; HUMANS; LEUKOCYTES; MARFAN SYNDROME; MICROFILAMENT PROTEINS; RNA STABILITY; RNA, MESSENGER;

EID: 69549135233     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21058     Document Type: Article

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