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DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2
2009
Nucleic Acids Research
A subtelomeric region, 4q35.2, is implicated in facioscapulohumeral muscular dystrophy (FSHD), a dominant disease thought to involve local pathogenic changes in chromatin. FSHD patients have too few copies of a tandem 3.3-kb repeat (D4Z4) at 4q35.2. No phenotype is associated with having few copies of an almost identical repeat at 10q26.3. Standard expression analyses have not given definitive answers as to the genes involved. To investigate the pathogenic effects of short D4Z4 arrays on gene
doi:10.1093/nar/gkp833
pmid:19820107
pmcid:PMC2794184
fatcat:aukwq6r4tjhtfkearho3zjjxqe