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

Authors	B Aral, M Coudé, J London, J Aupetit, J F Chassé, M T Zabot, B Chadefaux-Vekemans, P Kamoun
Journal	Human mutation (Hum Mutat) Vol. 9 Issue 1 Pg. 81-2 ( 1997) ISSN: 1059-7794 [Print] United States
PMID	8990018 (Publication Type: Case Reports, Journal Article)
Chemical References	Cystathionine beta-Synthase Pyridoxine
Topics	Cells, Cultured Cystathionine beta-Synthase (genetics) Fibroblasts (drug effects, enzymology) France Homocystinuria (genetics) Humans Mutation Pyridoxine (pharmacology)

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