Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia

Perlecan, a large heparan sulfate proteoglycan, is a component of the basement membrane and other extracellular matrices and has been implicated in multiple biological functions. Mutations in the perlecan gene (HSPG2) cause two classes of skeletal disorders: the relatively mild Schwartz-Jampel syndr...

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Main Authors: Arikawa-Hirasawa, Eri, Le, Alexander H., Nishino, Ichizo, Nonaka, Ikuya, Ho, Nicola C., Francomano, Clair A., Govindraj, Prasanthi, Hassell, John R., Devaney, Joseph M., Spranger, Jürgen, Stevenson, Roger E., Iannaccone, Susan, Dalakas, Marinos C., Yamada, Yoshihiko
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC447613/
https://ncbi.nlm.nih.gov/pubmed/11941538
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