Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia (Q24563749)

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Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia
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    Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia (English)
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    Eri Arikawa-Hirasawa
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    Alexander H Le
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    Ikuya Nonaka
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    Nicola C Ho
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    Prasanthi Govindraj
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    John R Hassell
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    Joseph M Devaney
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    Jürgen Spranger
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    Roger E Stevenson
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    Marinos C Dalakas
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    Yoshihiko Yamada
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    May 2002
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    70
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    5
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    1368-75
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