The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.
Institut für Humangenetik, Universität Göttingen, Germany.
M
M
Schloesser
S
S
Hofferbert
U
U
Bartz
G
G
Lutze
B
B
Lämmle
W
W
Engel
D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D005091:Exons; D005174:Factor XII / Q000032:analysis / Q000235:genetics*; D005175:Factor XII Deficiency / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics*; D014158:Transcription, Genetic
D005174:Factor XII