Grupo de Medicina Xenómica

Publicaciones

• Fernandez-Marmiesse A, Salas A, Vega A, Fernandez-Lorenzo JR, Barreiro J, Carracedo A.Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). Hum Mutat. 2006 Feb;27(2):214
• High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect. Lourdes Loidi, Celsa Quinteiro, Silvia Parajes, Jesús Barreiro, Domingo G. Lestón, José M. Cabezas-Agrícola, Aurelio M. Sueiro, David Araujo-Vilar, Lidia Catro-Feijóo, Javier Costas, Manuel Pombo, Fernando Domínguez. Clinical Endocrinology (2006) 64, 000–000. Online publication date: 9-Feb-2006.
• Yao J-G, Salas A, Bravi CM, Bandelt H-J (2006) A reappraisal of complete mtDNA variation in East Asian familias with hearing impairment. Hum Genet, in press