A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule.

Arbini, A A

A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. [electronic resource] - Blood Jun 1996 - 5085-94 p. digital

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

0006-4971


Adult
Alleles
Animals
Base Sequence
CHO Cells
Carrier Proteins--metabolism
Cloning, Molecular
Codon--genetics
Cricetinae
Cricetulus
DNA Mutational Analysis
DNA, Complementary--genetics
Endoplasmic Reticulum--metabolism
Endoplasmic Reticulum Chaperone BiP
Factor VII--chemistry
Factor VII Deficiency--genetics
Female
Glycosylation
Heat-Shock Proteins
Humans
Molecular Chaperones--metabolism
Molecular Sequence Data
Pedigree
Point Mutation
Protein Folding
Protein Processing, Post-Translational
RNA Splicing