Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients

Hum Mutat. 1997;9(1):81-2. doi: 10.1002/(SICI)1098-1004(1997)9:1<81::AID-HUMU18>3.0.CO;2-L.

Authors

B Aral¹, M Coudé, J London, J Aupetit, J F Chassé, M T Zabot, B Chadefaux-Vekemans, P Kamoun

Affiliation

¹ Laboratoire de Biochimie Génétique, Centre National de la Recherche Scientifique URA1335 Hôpital Necker-Enfants Malades, Paris, France.

PMID: 8990018
DOI: 10.1002/(SICI)1098-1004(1997)9:1<81::AID-HUMU18>3.0.CO;2-L

No abstract available

Publication types

Case Reports

MeSH terms

Cells, Cultured
Cystathionine beta-Synthase / genetics*
Fibroblasts / drug effects
Fibroblasts / enzymology
France
Homocystinuria / genetics*
Humans
Mutation*
Pyridoxine / pharmacology*

Substances

Cystathionine beta-Synthase
Pyridoxine