Article
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.
Nature genetics - 1 Mar 1996
Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi Y K, Tsukahara T, Arahata K
Abstract excerpt
Mutations in the STA gene at the Xq28 locus have been found in patients with X-linked Emery-Dreifuss muscular dystrophy (EDMD). This gene encodes a hitherto unknown protein named 'emerin'. To elucidate the subcellular localization of emerin, we raised two antisera against synthetic peptide fragments predicted from emerin cDNA. Using both antisera, we found positive nuclear membrane staining in skeletal, cardiac...
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