TY  - GEN
AU  - Vu,D
AU  - de Moerloose,P
AU  - Batorova,A
AU  - Lazur,J
AU  - Palumbo,L
AU  - Neerman-Arbez,M
TI  - Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion
SN  - 1468-6244
PY  - 2006///0727
KW  - Adult
KW  - Afibrinogenemia
KW  - blood
KW  - Amino Acid Sequence
KW  - Animals
KW  - COS Cells
KW  - Chlorocebus aethiops
KW  - metabolism
KW  - Crystallography, X-Ray
KW  - Exons
KW  - Female
KW  - Fibrinogen
KW  - chemistry
KW  - Heterozygote
KW  - Humans
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Protein Structure, Tertiary
KW  - Sequence Alignment
KW  - Slovakia
KW  - Transfection
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2005.033530
ER  -