Hypodysfibrinogenemia causing mild bleeding and thrombotic complications in a compound heterozygote of AalphaIVS4+1G>T mutation and Aalpha4841delC truncation (Aalpha(Perth)).
Jayo
Asier
A
Departmento of Cellular and Molecular Physiopathology, Centro de Inverstigaciones Biológicas (CIB-CSIC), Madrid, Spain.
Arnold
Erin
E
González-Manchón
Consuelo
C
Green
David
D
Lord
Susan T
ST
D001157:Arterial Occlusive Diseases / Q000097:blood / Q000235:genetics; D025861:Blood Coagulation Disorders, Inherited / Q000097:blood / Q000235:genetics*; D001780:Blood Coagulation Tests; D005260:Female; D005340:Fibrinogen / Q000235:genetics* / Q000378:metabolism; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D005820:Genetic Testing; D006230:Hand Injuries / Q000150:complications; D006470:Hemorrhage / Q000097:blood / Q000235:genetics* / Q000628:therapy; D006579:Heterozygote; D006801:Humans; D008595:Menorrhagia / Q000235:genetics; D008875:Middle Aged; D008970:Molecular Weight; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D006473:Postpartum Hemorrhage / Q000235:genetics; D013927:Thrombosis / Q000097:blood / Q000235:genetics* / Q000628:therapy
D015241:Fibrinogens, Abnormal; C464794:fibrinogen Aalpha; C483329:fibrinogen Perth; D005340:Fibrinogen