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A second locus for Marfan syndrome maps to chromosome 3p24.2–p25

✍ Scribed by Collod, Gwenaëlle; Babron, Marie-Claude; Jondeau, Guillaume; Coulon, Monique; Weissenbach, Jean; Dubourg, Olivier; Bourdarias, Jean-Pierre; Bonaïti-Pellié, Catherine; Junien, Claudine; Boileau, Catherine

Book ID: 109918575
Publisher: Nature Publishing Group
Year: 1994
Tongue: English
Weight: 481 KB
Volume: 8
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1194-264

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We report the results of linkage analysis in a large American family of Czech descent with dominantly inherited "pure" essential tremor (ET) and genetic anticipation. Genetic loci on chromosome 2p22-p25 establish linkage to this region with a maximum LOD score (Zmax) = 5.92 for the locus, D2S272. Ob