Characterization of mild coagulation factor VII deficiency: Activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s)

Haematologica

Volumn 89, Issue 12, 2004, Pages 1504-1509

  Freguia, Christian Furlan ^a   Toso, Raffaella ^b   Pollak, Eleanor S ^c   Arruda, Valder R ^c   Pinotti, Mirko ^a   Bernardi, Francesco ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

170s loop; FVII clearance; FVII deficiency; Missense mutations; Recombinant FVII variants

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 7; COMPLEMENTARY DNA; CYSTEINE; LYSINE; TRYPTOPHAN;

ADULT; AMINO ACID SUBSTITUTION; ANALYSIS OF VARIANCE; ARTICLE; BLOOD CLOTTING; CLINICAL ARTICLE; DISEASE ASSOCIATION; DRUG CLEARANCE; FEMALE; GENE SEQUENCE; HALF LIFE TIME; HETEROZYGOSITY; HUMAN; MOLECULAR BIOLOGY; MUTAGENESIS; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; STATISTICAL SIGNIFICANCE; STRUCTURE ACTIVITY RELATION;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CATALYTIC DOMAIN; CELL LINE; CODON; DNA, COMPLEMENTARY; FACTOR VII; FACTOR VII DEFICIENCY; FACTOR X; FEMALE; HALF-LIFE; HETEROZYGOTE; HUMANS; MALE; MICE; MICE, INBRED C57BL; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN CONFORMATION; PROTEIN INTERACTION MAPPING; RECOMBINANT FUSION PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION;

EID: 10444250971     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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