Hypofibrinogenaemia associated with a novel heterozygous γ289 Ala → Val substitution (fibrinogen Dorfen)

Thrombosis and Haemostasis

Volumn 92, Issue 6, 2004, Pages 1291-1295

  Dear, Amy ^a   Brennan, Stephen O ^a   Dempfle, Carl Erik ^b   Kirschtein, Werner ^b   George, Peter M ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Fibrinogen fibrin; Gene mutations; Inherited coagulation disorders; Protein structure folding

Indexed keywords

FIBRINOGEN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CASE REPORT; DENSITOMETRY; DNA SEQUENCE; ELECTROSPRAY MASS SPECTROMETRY; EXON; FEMALE; FIBRINOGEN BLOOD LEVEL; GENE MUTATION; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYDROGEN BOND; HYPOFIBRINOGENEMIA; PEPTIDE MAPPING; POLYMERIZATION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE; WESTERN BLOTTING;

ADULT; AFIBRINOGENEMIA; ALANINE; AMINO ACID SUBSTITUTION; BLOTTING, WESTERN; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; FIBRINOGEN; FIBRINOGENS, ABNORMAL; HETEROZYGOTE; HUMANS; HYDROGEN BONDING; MODELS, MOLECULAR; MUTATION; PEPTIDE MAPPING; PEPTIDES; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEIN STRUCTURE, SECONDARY; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TRYPSIN; VALINE;

EID: 10444250235     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH04-07-0409     Document Type: Article

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