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

Pérez, Belén

Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. [electronic resource] - Molecular genetics and metabolism Feb 2012 - 270-1 p. digital

Publication Type: Letter; Research Support, Non-U.S. Gov't

1096-7206

10.1016/j.ymgme.2011.10.019 doi


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