Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia (Q24563749)
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Current Data About Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia
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(P1932) Ichizo Nishino
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(P1932) Clair A Francomano

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(P1932) Susan Iannaccone

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(P1476) "Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia" (language: en)

(P2093) Eri Arikawa-Hirasawa
(P1545) 1

Alexander H Le
(P1545) 2

Ikuya Nonaka
(P1545) 4

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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(P356) 10.1086/340390
(P698) 11941538
(P932) 447613
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