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

Mol Genet Metab. 2012 Feb;105(2):270-1. doi: 10.1016/j.ymgme.2011.10.019. Epub 2011 Nov 7.

Authors

Belén Pérez, Julián Nevado, Pablo Lapunzina, Lorena Gallego, Celia Pérez-Cerdá, Begoña Merinero, Magdalena Ugarte, Lourdes R Desviat

PMID: 22115769
DOI: 10.1016/j.ymgme.2011.10.019

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Aberrations
Congenital Disorders of Glycosylation / diagnosis
Congenital Disorders of Glycosylation / genetics*
Genes, Recessive / genetics
Homocystinuria / diagnosis
Homocystinuria / genetics*
Homozygote
Humans
Microsatellite Repeats / genetics*
Mutation
Pathology, Molecular / methods*
Phosphotransferases (Phosphomutases) / deficiency
Propionic Acidemia / diagnosis
Propionic Acidemia / genetics*
Uniparental Disomy / diagnosis
Uniparental Disomy / genetics*

Substances

Phosphotransferases (Phosphomutases)

Supplementary concepts

Congenital disorder of glycosylation type 1A