Article
A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule.
Blood - 15 Jun 1996
Arbini A A, Mannucci M, Bauer K A
Abstract excerpt
We elucidated the genetic basis responsible for factor VII deficiency in an Italian woman with a severe bleeding diathesis. In the allele inherited from the patient's father, we identified a G to A mutation at nucleotide 6070 at the 5' splice site of intron 4 and a G to A substitution at nucleoti...
Topics
- Adult
- Alleles
- Animals
- Base Sequence
- CHO Cells
- Carrier Proteins
- Cloning, Molecular
- Codon
- Cricetinae
- Cricetulus
- DNA Mutational Analysis
- DNA, Complementary
- Endoplasmic Reticulum
- Endoplasmic Reticulum Chaperone BiP
- Factor VII
- Factor VII Deficiency
- Female
- Glycosylation