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Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
Nat Genet. 2000 Dec;26(4):480-3. doi: 10.1038/82638.
Nat Genet. 2000.
PMID: 11101850
Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome.
Rodgers KD, Sasaki T, Aszodi A, Jacenko O.
Rodgers KD, et al.
Hum Mol Genet. 2007 Mar 1;16(5):515-28. doi: 10.1093/hmg/ddl484. Epub 2007 Jan 9.
Hum Mol Genet. 2007.
PMID: 17213231
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