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

Autor:	B, Aral, M, Coudé, J, London, J, Aupetit, J F, Chassé, M T, Zabot, B, Chadefaux-Vekemans, P, Kamoun
Rok vydání:	1997
Předmět:	Mutation Cystathionine beta-Synthase Humans Pyridoxine Homocystinuria France Fibroblasts Cells Cultured
Zdroj:	Human mutation. 9(1)
ISSN:	1059-7794
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::ed6cb28e33e0971db6148b5a5526b088 https://pubmed.ncbi.nlm.nih.gov/8990018 Zobrazit plný text záznamu Plný text