Article
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Human mutation - 1 Jul 2011
Cozar Mónica, Urreizti Roser, Vilarinho Laura, Grosso Carola, Dodelson de Kremer Raquel, Asteggiano Carla G, Dalmau Jaime, García Ana María, Vilaseca María Antonia, Grinberg Daniel, Balcells Susana
Abstract excerpt
Homocystinuria due to CBS deficiency is a rare autosomal recessive disorder characterized by elevated plasma levels of homocysteine (Hcy) and methionine (Met). Here we present the analysis of 22 unrelated patients of different geographical origins, mainly Spanish and Argentinian. Twenty-two different mutations were found, 10 of which were novel. Five new mutations were missense and five were deletions of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.