McVey, J H

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