Article
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
The Journal of investigative dermatology - 1 Mar 2003
Hamada Takahiro, Wessagowit Vesarat, South Andrew P, Ashton Gabrielle H S, Chan Ien, Oyama Noritaka, Siriwattana Apatorn, Jewhasuchin Prachiya, Charuwichitratana Somyot, Thappa Devinder M, Jeevankumar Balasubramanian, Lenane Patsy, Krafchik Bernice, Kulthanan Kanokvalai, Shimizu Hiroshi, Kaya Tamer I, Erdal Mehmet E, Paradisi Mauro, Paller Amy S, Seishima Mariko, Hashimoto Takashi, McGrath John A
Abstract excerpt
The autosomal recessive disorder lipoid proteinosis results from mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in several tissues (including skin) and composed of two alternatively spliced isoforms, ECM1a and ECM1b, the latter lacking exon 7 of this 10-exon gene (ECM1). To date, mutations that either affect ECM1a alone or perturb both ECM1 transcripts have been demonstrated in six...
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