Article
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.
Investigative ophthalmology & visual science - 1 May 2003
Hu Xiaofeng, Peek Ron, Plomp Astrid, ten Brink Jacoline ten, Scheffer George, van Soest Simone, Leys Anita, de Jong Paulus T V M, Bergen Arthur A B
Abstract excerpt
PURPOSE: To characterize the ABCC6 R1141X nonsense mutation, which is implicated in more than 25% of a cohort of patients from The Netherlands with pseudoxanthoma elasticum (PXE). METHODS: A combination of single-strand conformational polymorphism (SSCP), PCR, sequencing, and Southern blot analysis was used to identify mutations in the ABCC6 gene in 62 patients. Haplotypes of 16 patients with the R1141X mutation...
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