Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review
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Elsevier BV
Reference24 articles.
1. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia);Nicole;Nat. Genet.,2000
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3. In situ hybridization to human chromosome 1 of a cDNA probe for the gene encoding the basement membrane heparan sulfate proteoglycan (HSPG);Wintle;Cytogenet. Cell Genet.,1990
4. Heparan sulfate proteoglycan of human colon: partial molecular cloning, cellular expression, and mapping of the gene (HSPG2) to the short arm of human chromosome 1;Dodge;Genomics,1991
5. Cloning of human heparan sulfate proteoglycan core protein, assignment of the gene (HSPG2) to 1p36.1----p35 and identification of a BamHI restriction fragment length polymorphism;Kallunki;Genomics,1991
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