Article
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria.
Clinical genetics - 1 Dec 2010
Espinós C, García-Cazorla A, Martínez-Rubio D, Martínez-Martínez E, Vilaseca M A, Pérez-Dueñas B, Kožich V, Palau F, Artuch R
Abstract excerpt
Hereditary cystathioninuria is due to mutations in the CTH gene that encodes for cystathionase, a pyridoxal-5'-phosphate (PLP) dependent enzyme. To date, mutations in this gene have been described in 10 unrelated cystathioninuric patients. Enzyme assays have showed that mutated cystathionase exhibits lower activity than controls. As cystathioninuria is usually accompanied by a wide variety of symptoms, it has...
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