Genetics & Genomics
Aspects of Zellweger spectrum patients with PEX1 mutations investigated
Published in Gene Therapy Weekly, October 27th, 2005
In a recently published article, scientists in Germany conducted a study "To analyze the PEX1 gene, the most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of patients with Zellweger spectrum. Mutations were detected by different methods including SSCP analyses as a screening technique on the basis of genomic or cDNA, followed by direct sequencing of PCR fragments with an abnormal electrophoresis pattern; 33 patients were studied."
"Two common mutations, c.2528G->A, G843D and c.2098_2098insT, I700YfsX42, accounted for over...
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Source: Gene Therapy Weekly (2005-10-27)
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