Hypofibrinogenaemia resulting from novel single nucleotide deletion at codon Bbeta58 (3404del A) associated with thrombotic stroke in infancy.
Brennan
Stephen O
SO
Molecular Pathology Laboratory, Canterbury Health Laboratories, P.O. Box 151, Christchurch, New Zealand. steve.brennan@chmeds.ac.nz
Mosesson
Michael W
MW
Lowen
Robin
R
Siebenlist
Kevin R
KR
Matsunaga
Alison
A
D000293:Adolescent; D000328:Adult; D000347:Afibrinogenemia / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D005192:Family Health; D005260:Female; D005340:Fibrinogen / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D020521:Stroke / Q000235:genetics*; D013927:Thrombosis / Q000235:genetics*
C115499:BBeta fibrinogen; D005340:Fibrinogen