Missense or splicing mutation? The case of a fibrinogen Bβ-chain mutation causing severe hypofibrinogenemia

Blood

Volumn 103, Issue 8, 2004, Pages 3051-3054

  Asselta, Rosanna ^a   Duga, Stefano ^a   Spena, Silvia ^a   Peyvandi, Flora ^a   Castaman, Giancarlo ^a   Malcovati, Massimo ^a   Mannucci, Pier Mannuccio ^a   Tenchini, Maria Luisa ^a  

^a Dept of Biol/Genet for Med Sci ^*

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; MESSENGER RNA;

ADULT; ARTICLE; BETA CHAIN; CASE REPORT; DISEASE SEVERITY; FEMALE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HYPOFIBRINOGENEMIA; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RNA PROCESSING; RNA SPLICING; THROMBOCYTE AGGREGATION; TRIPLE HELIX;

EID: 1842422434     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-10-3725     Document Type: Article

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