Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion. [electronic resource]
Producer: 20060727Description: e57 p. digitalISSN:- 1468-6244
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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