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Grupo de Medicina Xenómica

Other Metabolic Diseases Print E-mail
Article Index
Other Metabolic Diseases
Hipoglucemia persistente de la infancia
Enfermedad de Wilson
Publicaciones

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


Last Updated ( jueves, 15 febrero 2007 )