Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion.

Vu, D

Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion. [electronic resource] - Journal of medical genetics Sep 2005 - e57 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmg.2005.033530 doi


Adult
Afibrinogenemia--blood
Amino Acid Sequence
Animals
COS Cells
Chlorocebus aethiops--metabolism
Crystallography, X-Ray
Exons
Female
Fibrinogen--chemistry
Heterozygote
Humans
Models, Molecular
Molecular Sequence Data
Mutation, Missense
Protein Structure, Tertiary
Sequence Alignment
Slovakia
Transfection