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References |
(1) |
Arikawa-Hirasawa E, Watanabe H, Takami H, Hassell JR, Yamada Y: Perlecan is essential for cartilage and cephalic development. Nat. Genet. 23, 354-358, 1999 |
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(2) |
Arikawa-Hirasawa E, Wilcox WR, Le AH, Silverman N, Govindraj P, Hassell JR, Yamada Y: Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nat. Genet. 27, 431-434, 2001 |
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(3) |
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: Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am. J. Hum. Genet. 70, 1368-1375, 2002 |
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(4) |
Arikawa-Hirasawa E, Rossi SG, Rotundo RL, Yamada Y: Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice. Nat. Neurosci. 5, 119-123, 2002 |
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Links
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PG-A09 基底膜のプロテオグリカン(朔 敬) |
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