Fibrinogen Mannheim II: A novel γ307 His ← Tyr substitution in the γD domain causes hypofibrinogenemia

Journal of Thrombosis and Haemostasis

Volumn 2, Issue 12, 2004, Pages 2194-2199

  Dear, Amy ^b   Dempfle, C E ^a   Brennan, S O ^b   Kirschstein, W ^a   George, P M ^b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Fibrinogen variant; Hypofibrinogenemia; Mass spectrometry

Indexed keywords

FIBRINOGEN; GENOMIC DNA; HISTIDINE; PLASMINOGEN ACTIVATOR INHIBITOR; TISSUE PLASMINOGEN ACTIVATOR; TYROSINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CASE REPORT; CODON; CONCENTRATION (PARAMETERS); DNA SEQUENCE; ELECTROSPRAY MASS SPECTROMETRY; FEMALE; FIBRINOGEN BLOOD LEVEL; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GERMANY; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPOFIBRINOGENEMIA; PRIORITY JOURNAL; THROMBOELASTOGRAPHY;

ADULT; BLOOD COAGULATION; BLOOD COAGULATION TESTS; CODON; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; FIBRINOGEN; FIBRINOLYSIS; HETEROZYGOTE; HISTIDINE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; PROTEIN CONFORMATION; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TYROSINE;

EID: 13244252406     PISSN: 15387933     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2004.00973.x     Document Type: Article

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