TY  - GEN
AU  - Pérez,Belén
AU  - Nevado,Julián
AU  - Lapunzina,Pablo
AU  - Gallego,Lorena
AU  - Pérez-Cerdá,Celia
AU  - Merinero,Begoña
AU  - Ugarte,Magdalena
AU  - Desviat,Lourdes R
TI  - Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases
SN  - 1096-7206
PY  - 2012///0723
KW  - Chromosome Aberrations
KW  - Congenital Disorders of Glycosylation
KW  - diagnosis
KW  - Genes, Recessive
KW  - genetics
KW  - Homocystinuria
KW  - Homozygote
KW  - Humans
KW  - Microsatellite Repeats
KW  - Mutation
KW  - Pathology, Molecular
KW  - methods
KW  - Phosphotransferases (Phosphomutases)
KW  - deficiency
KW  - Propionic Acidemia
KW  - Uniparental Disomy
N1  - Publication Type: Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2011.10.019
ER  -