TY  - GEN
AU  - McVey,J H
AU  - Boswell,E J
AU  - Takamiya,O
AU  - Tamagnini,G
AU  - Valente,V
AU  - Fidalgo,T
AU  - Layton,M
AU  - Tuddenham,E G
TI  - Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency
SN  - 0006-4971
PY  - 1998///0827
KW  - Animals
KW  - Base Sequence
KW  - COS Cells
KW  - Cerebral Hemorrhage
KW  - etiology
KW  - Chorionic Villi Sampling
KW  - Cloning, Molecular
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Exons
KW  - genetics
KW  - Factor VII
KW  - chemistry
KW  - Factor VII Deficiency
KW  - complications
KW  - Fatal Outcome
KW  - Female
KW  - Fetal Diseases
KW  - diagnosis
KW  - Genes, Lethal
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Introns
KW  - Male
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Point Mutation
KW  - Polymorphism, Restriction Fragment Length
KW  - Polymorphism, Single-Stranded Conformational
KW  - Pregnancy
KW  - Protein Structure, Tertiary
KW  - RNA Splicing
KW  - RNA, Messenger
KW  - metabolism
N1  - Publication Type: Case Reports; Journal Article
ER  -