Article
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
Human mutation - 1 Jul 2003
Urreizti Roser, Balcells Susana, Rodés Marga, Vilarinho Laura, Baldellou Antonio, Couce María Luz, Muñoz Carmen, Campistol Jaume, Pintó Xavier, Vilaseca María Antonia, Grinberg Daniel
Abstract excerpt
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency has been extensively studied, but to date, no spectrum of CBS mutations of Spanish homocystinuric patients has been reported. Here we present a mutation analysis of thirteen Spanish and three Portuguese unrelated homocystinuric patients. Ten mutations were found to account for the thirty-two mutant alleles and five of these (C275Y, L338P, S349N,...
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