Article
Mutation analysis of candidate genes within the 2q33.3 linkage area for familial early-onset generalised osteoarthritis.
European journal of human genetics : EJHG - 1 Jul 2007
Min Josine L, Meulenbelt Ingrid, Kloppenburg Margreet, van Duijn Cornelia M, Slagboom P Eline
Abstract excerpt
In a genome-wide linkage scan of seven families with familial early-onset osteoarthritis (FOA), we mapped a FOA locus to a 5 cM region on chromosome 2q33.3-2q34 with a maximum LOD score of 6.05. To identify causal variants, 17 positional candidate genes and FRZB were sequenced for coding, splice sites, and 5' and 3' untranslated regions. The pathogenicity of possible disease-causing variants was evaluated using...
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