Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies
JP Kraus, J Hašek, V Kožich, R Collard… - Molecular genetics and …, 2009 - Elsevier
We report studies of six individuals with marked elevations of cystathionine in plasma and/or
urine. Studies of CTH, the gene that encodes cystathionine γ-lyase, revealed the presence
among these individuals of either homozygous or compound heterozygous forms of a novel
large deletion, p. Gly57_Gln196del, two novel missense mutations, c. 589C> T (p.
Arg197Cys) and c. 932C> T (p. Thr311Ile), and one previously reported alteration, c. 200C>
T (p. Thr67Ile). Another novel missense mutation, c. 185G> T (p. Arg62His), was found in …
urine. Studies of CTH, the gene that encodes cystathionine γ-lyase, revealed the presence
among these individuals of either homozygous or compound heterozygous forms of a novel
large deletion, p. Gly57_Gln196del, two novel missense mutations, c. 589C> T (p.
Arg197Cys) and c. 932C> T (p. Thr311Ile), and one previously reported alteration, c. 200C>
T (p. Thr67Ile). Another novel missense mutation, c. 185G> T (p. Arg62His), was found in …