Mutational screening of the <it>USH2A </it>gene in Spanish USH patients reveals 23 novel pathogenic mutations

by Diaz-Llopis Manuel, Navarro Rafael, Bernal Sara, Blanco-Kelly Fiona, Avila-Fernandez Almudena, Leon Ana M, Rodrigo Regina, Jaijo Teresa, Aparisi Maria J, Garcia-Garcia Gema, Baiget Montserrat, Ayuso Carmen, Millan Jose M, Aller Elena
Published 2011-10-01

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)₂D serum levels are associated with <it>...

by García-Miñaur Sixto, García-Sagredo José M, Soriano-Guillén Leandro, Fontalba Ana, Aleixandre Fernando, Vila-Cots Jaime, Martorell Loreto, Vilalta Ramón, Nieto José, Rica Itxaso, Ariceta Gema, Rey-Cordo Lourdes, Díaz-Grande José M, Bernabeu Ignacio, Gil Marta, Pombo Manuel, Cabanas Paloma, Barreiro Jesús, Castro-Feijóo Lidia, Morey Marcos, Rodríguez Berta, Juaristi Saioa, García-Pardos Carmen, Martínez-Peinado Antonio, Millán José M, Medeira Ana, Moldovan Oana, Fernandez Angeles, Loidi Lourdes
Published 2011-09-01