Lorena Gallego

Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases.

P. Lapunzina, J. Nevado, C. Pérez-Cerdá, 2012, Molecular genetics and metabolism.

Molecular Genetics and Metabolism

P. Lapunzina, J. Nevado, C. Pérez-Cerdá, 2012 .