A novel fibrinogen Bβ chain framshift mutation in a patient with severe congenital hypofibrinogenaemia

Thrombosis and Haemostasis

Volumn 95, Issue 6, 2006, Pages 931-935

  Xu, Xiucai ^a   Wu, Jingsheng ^a   Zhai, Zhimin ^a   Zhou, Rongfu ^b   Wang, Xuefeng ^b   Wang, Hongli ^b   Ding, Kaiyang ^a   Sun, Zimin ^a   Ni, Heyu ^c  

^a ANHUI MEDICAL UNIVERSITY   (China)

^b SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

^c ST MICHAEL'S HOSPITAL   (Canada)

Author keywords

Afibrinogenemia; Congenital hypofibrionogenemia; Fibrin; Fibrinogen; Gene mutation; Platelet aggregation

Indexed keywords

DNA; FIBRINOGEN; FIBRINOGEN A ALPHA CHAIN; FIBRINOGEN B BETA CHAIN; GLYCINE; THROMBIN; UNCLASSIFIED DRUG; VALINE; BBETA FIBRINOGEN;

ADULT; AFIBRINOGENEMIA; ARTICLE; BLEEDING DISORDER; BLOOD CLOTTING TIME; CASE REPORT; CODON; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; FIBRINOGEN BLOOD LEVEL; FRAMESHIFT MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOFIBRINOGENEMIA; MALE; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STABILITY; THROMBIN TIME; THROMBOCYTE; THROMBOCYTE AGGREGATION INHIBITION; WESTERN BLOTTING; BLOOD; BLOOD CLOTTING; CHEMICAL STRUCTURE; CHEMISTRY; CHINA; GENETICS; METABOLISM; PROTEIN CONFORMATION;

ADULT; AFIBRINOGENEMIA; BLOOD COAGULATION; CHINA; DNA MUTATIONAL ANALYSIS; FIBRINOGEN; FRAMESHIFT MUTATION; HUMANS; MALE; MODELS, MOLECULAR; PARTIAL THROMBOPLASTIN TIME; PROTEIN CONFORMATION; THROMBIN TIME;

EID: 33745322907     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tetlet.2005.11.162     Document Type: Article

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