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Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Arikawa-Hirasawa E, et al. Among authors: yamada y. Am J Hum Genet. 2002 May;70(5):1368-75. doi: 10.1086/340390. Epub 2002 Apr 8. Am J Hum Genet. 2002. PMID: 11941538 Free PMC article.
Role of perlecan in skeletal development and diseases.
Hassell J, Yamada Y, Arikawa-Hirasawa E. Hassell J, et al. Among authors: yamada y. Glycoconj J. 2002 May-Jun;19(4-5):263-7. doi: 10.1023/A:1025340215261. Glycoconj J. 2002. PMID: 12975604 Review.
9,956 results