| Literature DB >> 7894487 |
M Pigg1, S Jagell, A Sillén, J Weissenbach, K H Gustavson, C Wadelius.
Abstract
Sjögren-Larsson Syndrome (SLS) is characterized by congenital ichthyosis, spastic dior tetraplegia and mental retardation. It is an autosomal recessive trait that is frequent in the northern part of Sweden. Based on linkage analysis and allelic association, the disorder has now been mapped to chromosome 17. Meiotic recombinations suggest that the gene is flanked by D17S805 on the centromeric and D17S783, D17S959, D17S842 and D17S925 on the telomeric side. These markers map to the same location in reference pedigrees. Strong allelic association (chi-square 60.28, p < 0.0003) to D17S805 suggests that the mutation is located close to this marker.Entities:
Mesh:
Year: 1994 PMID: 7894487 DOI: 10.1038/ng1294-361
Source DB: PubMed Journal: Nat Genet ISSN: 1061-4036 Impact factor: 38.330