A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

BACKGROUND: 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. METHODS: We identified 5 ZS patients f...

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Detalles Bibliográficos
Autores principales: Levesque, Sebastien, Morin, Charles, Guay, Simon-Pierre, Villeneuve, Josee, Marquis, Pascale, Yik, Wing Yan, Jiralerspong, Sarn, Bouchard, Luigi, Steinberg, Steven, Hacia, Joseph G, Dewar, Ken, Braverman, Nancy E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3483250/
https://www.ncbi.nlm.nih.gov/pubmed/22894767
http://dx.doi.org/10.1186/1471-2350-13-72

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