Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transpl...

por Yus Cebrian, Flor, del Valle Recasens Flores, María, Izquierdo Álvarez, Silvia, Parra Salinas, Ingrid, Rodriguez-Vigil Iturrate, Carmen
Publicado 2016

Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation

por Recio, Maria J., Dominguez-Pinilla, Nerea, Perrig, Melina Soledad, Rodriguez Vigil-Iturrate, Carmen, Salmón-Rodriguez, Nerea, Martinez Faci, Cristina, Castro-Panete, María J., Blas-Espada, Javier, López-Nevado, Marta, Ruiz-Garcia, Raquel, Chaparro-García, Rebeca, Allende, Luis M., Gonzalez-Granado, Luis Ignacio
Publicado 2019