A novel mutation in the fibrinogen γ-chain 216 Gly>Glu causes hypofibrinogenemia.
Lab. Biología del Desarrollo de la Hemostasia, Instituto Venezolano de Investigaciones Científicas (IVIC), Caracas, Venezuela. Electronic address: rmarchi@ivic.gob.ve.
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R
Marchi
Molecular Pathology Laboratory, University of Otago, Christchurch, New Zealand.
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S
Brennan
Banco Municipal de Sangre del Distrito Capital, Caracas, Venezuela.
M E
ME
Mijares
D000347:Afibrinogenemia / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005340:Fibrinogen / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008958:Models, Molecular; D017354:Point Mutation
C027539:fibrinopeptides gamma; D005340:Fibrinogen