A Thr359met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule

Blood

Volumn 87, Issue 12, 1996, Pages 5085-5094

  Arbini, Arnaldo A ^b   Mannucci, Pier Mannuccio ^b   Bauer, Kenneth A ^a  

^a VA BOSTON HEALTHCARE SYSTEM   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ARGININE; BLOOD CLOTTING FACTOR 7; COMPLEMENTARY DNA; CYTOSINE; GLUTAMINE; GUANINE; MESSENGER RNA; METHIONINE; THREONINE; THYMINE; CARRIER PROTEIN; CHAPERONE; HEAT SHOCK PROTEIN; MOLECULAR CHAPERONE GRP78;

ADULT; ANIMAL CELL; ARTICLE; BLEEDING TENDENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CASE REPORT; CELL LYSATE; CHO CELL; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; ITALY; MISSENSE MUTATION; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN FOLDING; RNA PROCESSING; ALLELE; ANIMAL; CHEMISTRY; CODON; CRICETULUS; GENETICS; GLYCOSYLATION; HAMSTER; METABOLISM; MOLECULAR CLONING; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; PROTEIN PROCESSING; RNA SPLICING; SECRETION;

ADULT; ALLELES; ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; CHO CELLS; CLONING, MOLECULAR; CODON; CRICETINAE; CRICETULUS; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ENDOPLASMIC RETICULUM; FACTOR VII; FACTOR VII DEFICIENCY; FEMALE; GLYCOSYLATION; HEAT-SHOCK PROTEINS; HUMANS; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PROTEIN FOLDING; PROTEIN PROCESSING, POST-TRANSLATIONAL; RNA SPLICING;

EID: 0029665491     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v87.12.5085.bloodjournal87125085     Document Type: Article

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