Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients

BACKGROUND: Mutations in PEX1 are the most common primary cause of Zellweger syndrome. In addition to exonic mutations, deletions and splice site mutations two 5' polymorphisms at c.-137 and c.-53 with a potential influence on PEX1 protein levels have been described in the 5' untranslated...

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Detalles Bibliográficos
Autores principales: Thoms, Sven, Grønborg, Sabine, Rabenau, Jana, Ohlenbusch, Andreas, Rosewich, Hendrik, Gärtner, Jutta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3167756/
https://www.ncbi.nlm.nih.gov/pubmed/21846392
http://dx.doi.org/10.1186/1471-2350-12-109

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3167756/
https://www.ncbi.nlm.nih.gov/pubmed/21846392
http://dx.doi.org/10.1186/1471-2350-12-109

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