S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues.
Beluzić R, Cuk M, Pavkov T, Barić I, Vugrek O.
Beluzić R, et al.
Biochem Biophys Res Commun. 2008 Mar 28;368(1):30-6. doi: 10.1016/j.bbrc.2008.01.042. Epub 2008 Jan 22.
Biochem Biophys Res Commun. 2008.
PMID: 18211827
Two missense mutations in codons 89 (A>V) and 143 (Y>C) in the AdoHcyase gene were identified [N.R.M. Buist, B. Glenn, O. Vugrek, C. Wagner, S. Stabler, R.H. Allen, I. ...Accordingly, we have proven the Y143C mutation to be highly inactivating [R. Be …
Two missense mutations in codons 89 (A>V) and 143 (Y>C) in the AdoHcyase gene were identified [N.R.M. Buist, B. Glenn, O. Vugre …