Vega, et al. (2005) | SGD (original) (raw)
Reference: Vega, et al. (2005)
Abstract
Roberts syndrome is an autosomal recessive disorder characterized by craniofacial anomalies, tetraphocomelia and loss of cohesion at heterochromatic regions of centromeres and the Y chromosome. We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity.
PMID: 15821733
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Reference Type
Journal Article | Research Support, Non-U.S. Gov't
Authors
Vega, Waisfisz Q, Gordillo, Sakai N, Yanagihara I, Yamada, Van Gosliga, Kayserili H, Xu C, Ozono K,
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