Nature Genetics
37, 468 - 470 (2005)
Published online: 10 April 2005; | doi:10.1038/ng1548
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesionHugo Vega, Quinten Waisfisz, Miriam Gordillo, Norio Sakai, Itaru Yanagihara, Minoru Yamada, Djoke van Gosliga, Hülya Kayserili, Chengzhe Xu, Keiichi Ozono, Ethylin Wang Jabs, Koji Inui
& Hans JoenjeSupplementary Fig. 1 (pdf 56K)
Mutations in ESCO2 in 15 RBS families. Supplementary Fig. 2 (pdf 2M)
Map of the genomic region between markers D8S1771 and D8S1820 and gene structure and tissue expression of ESCO2. Supplementary Fig. 3 (pdf 1M)
Multiple protein sequence alignment of ESCO2 vertebrate orthologs. Supplementary Fig. 4 (pdf 176K)
Multiple sequence alignment of the Eco1p domain in different species. Supplementary Fig. 5 (pdf 1M)
Mitotic spindle checkpoint study in RBS cells. Supplementary Methods (pdf 12K)
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