Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency. [electronic resource]
- Blood Aug 1998
- 920-6 p. digital
Publication Type: Case Reports; Journal Article
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