A new mutation trans to I278T cystathionine beta-synthase associated with Factor V Leiden causes mild homocystinuria but severe vascular disease.
Bosio
S
S
Cavallero
G
G
Brusa
E
E
Alberti
F
F
Camaschella
C
C
D000293:Adolescent; D015897:Comorbidity; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005165:Factor V; D005192:Family Health; D020022:Genetic Predisposition to Disease; D006712:Homocystinuria / Q000209:etiology* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D014652:Vascular Diseases / Q000209:etiology* / Q000235:genetics
C095381:factor V Leiden; D005165:Factor V; D003541:Cystathionine beta-Synthase