Deletions in OTC

• March 22nd, 2009

Mol Genet Metab. 2009 Mar;96(3):97-105. Epub 2009 Jan 12.
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong  LJ.

http://www.ncbi.nlm.nih.gov/pubmed/19138872

This article highlights the importance of investigating for possible deletions when mutations are not found for genetic disorders.

Good reading,

Philippe Campeau