| Literature DB >> 25352100 |
Abstract
A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies.Entities:
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Year: 2014 PMID: 25352100 PMCID: PMC4268132 DOI: 10.1038/ng.3123
Source DB: PubMed Journal: Nat Genet ISSN: 1061-4036 Impact factor: 38.330