Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.
Kozich
V
V
Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine, Prague, Czech Republic.
Janosík
M
M
Sokolová
J
J
Oliveriusová
J
J
Orendác
M
M
Kraus
J P
JP
Elleder
D
D
D000483:Alleles; D001483:Base Sequence; D003541:Cystathionine beta-Synthase / Q000172:deficiency* / Q000235:genetics*; D018153:Czech Republic; D005260:Female; D006712:Homocystinuria / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D008297:Male; D018598:Minisatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis / Q000096:biosynthesis; D018154:Slovakia
D012333:RNA, Messenger; D003541:Cystathionine beta-Synthase