Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.
Aral
B
B
Laboratoire de Biochimie Génétique, Centre National de la Recherche Scientifique URA1335 Hôpital Necker-Enfants Malades, Paris, France.
Coudé
M
M
London
J
J
Aupetit
J
J
Chassé
J F
JF
Zabot
M T
MT
Chadefaux-Vekemans
B
B
Kamoun
P
P
D002478:Cells, Cultured; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005347:Fibroblasts / Q000187:drug effects / Q000201:enzymology; D005602:France; D006712:Homocystinuria / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011736:Pyridoxine / Q000494:pharmacology*
D003541:Cystathionine beta-Synthase; D011736:Pyridoxine