Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations

Blood

Volumn 102, Issue 9, 2003, Pages 3210-3216

  Montefusco, Maria Claudia ^a   Duga, Stefano ^a   Asselta, Rosanna ^a   Malcovati, Massimo ^a   Peyvandi, Flora ^a   Santagostino, Elena ^a   Mannucci, Pier Mannuccio ^a   Tenchini, Maria Luisa ^a  

^a Dept Biol and Genet for Med Sci ^*

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5;

ADOLESCENT; ADULT; ARTICLE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; PROTEIN DOMAIN; SITE DIRECTED MUTAGENESIS;

EID: 0142183357     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-03-0922     Document Type: Article

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