A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. [electronic resource]
Producer: 19960731Description: 5085-94 p. digitalISSN:- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
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