Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen γ-chain gene as a novel mechanism for congenital afibrinogenaemia

British Journal of Haematology

Volumn 139, Issue 1, 2007, Pages 128-132

  Spena, Silvia ^a   Asselta, Rosanna ^a   Platé, Manuela ^a   Castaman, Giancarlo ^b   Duga, Stefano ^a   Tenchini, Maria Luisa ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SAN BORTOLO HOSPITAL   (Italy)

Author keywords

Afibrinogenaemia; Deep intronic mutation; Fibrinogen; Fibrinogen chain gene; Pseudo exon activation

Indexed keywords

FIBRINOGEN;

AFIBRINOGENEMIA; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; EXON; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; INTRON; NONHUMAN; PRIORITY JOURNAL; RNA SPLICING;

AFIBRINOGENEMIA; ALTERNATIVE SPLICING; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FEMALE; FIBRINOGEN; HUMANS; INTRONS; MALE; MUTATION; PEDIGREE;

EID: 34548552991     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2007.06758.x     Document Type: Article

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