A new mutation in the HNF4 binding region of the factor VII promoter in a patient with severe factor VII deficiency

Blood

Volumn 96, Issue 13, 2000, Pages 4370-4372

  Carew, Josephine A ^b   Pollak, Eleanor S ^b   Lopaciuk, Stanislaw ^b   Bauer, Kenneth A ^a  

^a VA BOSTON HEALTHCARE SYSTEM   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; BLOOD CLOTTING FACTOR 7; DNA BINDING PROTEIN; HEPATOCYTE NUCLEAR FACTOR 4; MLX PROTEIN, HUMAN; OLIGODEOXYRIBONUCLEOTIDE; PHOSPHOPROTEIN; RECOMBINANT PROTEIN; TRANSCRIPTION FACTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BINDING COMPETITION; BINDING SITE; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CASE REPORT; CELL CULTURE; CODON; FRAMESHIFT MUTATION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENETICS; GENOTYPE; HETEROZYGOTE; HUMAN; MALE; METABOLISM; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLAND; PROMOTER REGION;

ADULT; AMINO ACID SUBSTITUTION; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; BINDING SITES; BINDING, COMPETITIVE; CELLS, CULTURED; CODON; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FACTOR VII; FACTOR VII DEFICIENCY; FRAMESHIFT MUTATION; GENOTYPE; HEPATOCYTE NUCLEAR FACTOR 4; HETEROZYGOTE; HUMANS; MALE; OLIGODEOXYRIBONUCLEOTIDES; PHOSPHOPROTEINS; POINT MUTATION; POLAND; PROMOTER REGIONS (GENETICS); RECOMBINANT PROTEINS; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC; TRANSFECTION;

EID: 0034672258     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.13.4370     Document Type: Article

References (17)

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