Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion

Blood

Volumn 95, Issue 4, 2000, Pages 1336-1341

  Duga, Stefano ^b   Asselta, Rosanna ^b   Santagostino, Elena ^b   Zeinali, Sirous ^b   Simonic, Tatjana ^b   Malcovati, Massimo ^b   Mannucci, Pier Mannuccio ^b   Tenchini, Maria Luisa ^a  

^a Dipto Biol Gen per le Sci Med   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; MUTANT PROTEIN;

ADOLESCENT; ADULT; AFIBRINOGENEMIA; ALPHA CHAIN; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE DELETION; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN SECRETION; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

EID: 0034651759     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v95.4.1336.004k16_1336_1341     Document Type: Article

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