Article
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.
Genomics - 15 Nov 1999
Le Saux O, Urban Z, Göring H H, Csiszar K, Pope F M, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl M G, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong P T, Bergen A A, Boyd C D
Abstract excerpt
We have performed linkage analysis on 21 families with pseudoxanthoma elasticum (PXE) using 10 polymorphic markers located on chromosome 16p13.1. The gene responsible for the PXE phenotype was localized to an 8-cM region of 16p13.1 between markers D16S500 and D16S3041 with a maximum lod score of 8.1 at a recombination fraction of 0.04 for marker D16S3017. The lack of any locus heterogeneity suggests that the...
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