Ontology highlight
ABSTRACT:
SUBMITTER: Levesque S
PROVIDER: S-EPMC3483250 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Levesque Sebastien S Morin Charles C Guay Simon-Pierre SP Villeneuve Josee J Marquis Pascale P Yik Wing Yan WY Jiralerspong Sarn S Bouchard Luigi L Steinberg Steven S Hacia Joseph G JG Dewar Ken K Braverman Nancy E NE
BMC medical genetics 20120815
<h4>Background</h4>Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains unsolved.<h4>Methods</h4>We identified 5 ZS patients from SLSJ diagnosed by peroxisome dysfunction between 1990-2010 and sequenced all coding exons of known PEX genes in one patient using Next Generation Sequencing (NGS) for diagnostic confi ...[more]