Article
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Journal of human genetics - 1 Jan 2006
Urreizti Roser, Asteggiano Carla, Bermudez Marta, Córdoba Alfonso, Szlago Mariana, Grosso Carola, de Kremer Raquel Dodelson, Vilarinho Laura, D'Almeida Vania, Martínez-Pardo Mercedes, Peña-Quintana Luís, Dalmau Jaime, Bernal Jaime, Briceño Ignacio, Couce María Luz, Rodés Marga, Vilaseca Maria Antonia, Balcells Susana, Grinberg Daniel
Abstract excerpt
Classical homocystinuria is due to cystathionine beta-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene. Mutation p.I278T is very prevalent, has been found in all European countries where it has been looked for with the exception of the Iberian peninsula, and is known to respond to vitamin B6. On the other hand, mutation p.T191M is...
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