Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients

Blood Coagulation and Fibrinolysis

Volumn 21, Issue 2, 2010, Pages 164-167

  Wahab, Magy Abdel ^a   De Moerloose, Philippe ^b   Fish, Richard J ^c   Neerman Arbez, Marguerite ^b,c  

^a CAIRO UNIVERSITY   (Egypt)

^b PSI   (Switzerland)

^c UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

Fibrinogen assembly; Fibrinogen secretion; Mutation identification and expression

Indexed keywords

COMPLEMENTARY DNA; FIBRINOGEN; FIBRINOGEN A ALPHA CHAIN; FIBRINOGEN B BETA CHAIN; SIGNAL PEPTIDE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AFIBRINOGENEMIA; AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL STRAIN COS7; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EGYPT; FEMALE; GENE EXPRESSION; GENETIC TRANSFECTION; HOMOZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WILD TYPE;

ADOLESCENT; ADULT; AFIBRINOGENEMIA; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COS CELLS; DNA, COMPLEMENTARY; EGYPT; FEMALE; FIBRINOGEN; GENE EXPRESSION; HUMANS; MALE; TRANSFECTION; YOUNG ADULT;

EID: 76449100571     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32833678d5     Document Type: Article

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