Author,Title,Journal,ISSN,Publisher,Date,Volume,Number,Page,URL,URL(DOI)
Belén Pérez and Julián Nevado and Pablo Lapunzina and Lorena Gallego and Celia Pérez-Cerdá and Begoña Merinero and Magdalena Ugarte and Lourdes R. Desviat,Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases,Molecular Genetics and Metabolism,1096-7192,Elsevier BV,2012-02,105,2,270-271,https://cir.nii.ac.jp/crid/1364233268313684992,https://doi.org/10.1016/j.ymgme.2011.10.019