Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.
We describe four new mutations in the cystathionine beta-synthase gene: three point mutations localized in exons 3, 9 and 10 and one mutation in exon 12 which results in stop codon.
Coudé
M
M
Hôpital Necker-Enfants Malades, Paris, France.
Aupetit
J
J
Zabot
M T
MT
Kamoun
P
P
Chadefaux-Vekemans
B
B
D003241:Consanguinity; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005091:Exons; D006712:Homocystinuria / Q000201:enzymology / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational
D003541:Cystathionine beta-Synthase