Congenital afibrinogenemia: First identification of splicing mutations in the fibrinogen Bβ-chain gene causing activation of cryptic splice sites

Blood

Volumn 100, Issue 13, 2002, Pages 4478-4484

  Spena, Silvia ^a,b   Duga, Stefano ^a,b   Asselta, Rosanna ^a,b   Malcovati, Massimo ^a,b   Peyvandi, Flora ^a,b   Tenchini, Maria Luisa ^a,b,c  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c Dept of Biol for Medical Sciences ^*  (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DINUCLEOTIDE; FIBRINOGEN; PROTEIN;

AFIBRINOGENEMIA; ARTICLE; BETA CHAIN; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; GENE ACTIVATION; GENE CONSTRUCT; GENE MUTATION; GENETIC ANALYSIS; HELA CELL; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; PHYSIOLOGY; PLASMID; PREDICTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; WILD TYPE;

EID: 0037114754     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-06-1647     Document Type: Article

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