Congenital afibrinogenemia: Intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bβ-chain gene

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1639, Issue 2, 2003, Pages 87-94

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

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

Congenital afibrinogenemia; Fibrinogen B chain; Missense mutation; Protein in vitro expression

Indexed keywords

FIBRINOGEN; GLOBULAR PROTEIN; BBETA FIBRINOGEN;

AFIBRINOGENEMIA; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BETA CHAIN; BLEEDING; CARBOXY TERMINAL SEQUENCE; CELL STRAIN COS1; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; GENE CLUSTER; GENE MUTATION; GENE SEQUENCE; HEPATOMA CELL; HOMOZYGOSITY; HUMAN; HUMAN CELL; IRAN; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN SECRETION; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; SIBLING; ANIMAL; DNA SEQUENCE; GENETICS; METABOLISM; PEDIGREE; POINT MUTATION; SEQUENCE ALIGNMENT;

IRANIA;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; COS CELLS; ENZYME-LINKED IMMUNOSORBENT ASSAY; FIBRINOGEN; HUMANS; PEDIGREE; POINT MUTATION; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 1642331679     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(03)00125-X     Document Type: Article

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