Pérez, Belén <br/><br/>
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 
<br/><br/> Publication Type: Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2011.10.019  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Chromosome Aberrations<br/>Congenital Disorders of Glycosylation--diagnosis<br/>Genes, Recessive--genetics<br/>Homocystinuria--diagnosis<br/>Homozygote<br/>Humans<br/>Microsatellite Repeats--genetics<br/>Mutation<br/>Pathology, Molecular--methods<br/>Phosphotransferases (Phosphomutases)--deficiency<br/>Propionic Acidemia--diagnosis<br/>Uniparental Disomy--diagnosis