Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency. [electronic resource]
Producer: 19980827Description: 920-6 p. digitalISSN:- 0006-4971
- Animals
- Base Sequence
- COS Cells
- Cerebral Hemorrhage -- etiology
- Chorionic Villi Sampling
- Cloning, Molecular
- Consanguinity
- DNA Mutational Analysis
- Exons -- genetics
- Factor VII -- chemistry
- Factor VII Deficiency -- complications
- Fatal Outcome
- Female
- Fetal Diseases -- diagnosis
- Genes, Lethal
- Homozygote
- Humans
- Infant, Newborn
- Introns -- genetics
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- Pregnancy
- Protein Structure, Tertiary
- RNA Splicing
- RNA, Messenger -- metabolism
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Publication Type: Case Reports; Journal Article
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