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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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| Główni autorzy: | , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2012
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3483250/ https://ncbi.nlm.nih.gov/pubmed/22894767 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-72 |
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