Ancient origin of the CTH alelle carrying the c. 200C > T (p.T67I) variant in patients with cystathioninuria

Abstract

This study determined haplotypes of CTH alleles carrying the c.200C>T variant in Spanish and Czech individuals and revealed that this variant occured probably about 7000 years ago.

Keywords

• ancient origin
• CTH gene
• Cystathioninuria
• Cystathionine gamma
• lyase
• pyridoxine therapy
• gamma-lyase
• mutation
• lineages
• europe