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Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
Vilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, Salla Ranta, Kati Donner, Francesco Muntoni, Caroline Sewry, Corrado Angelini, Kate Bushby, Peter Van den Bergh, Susan Iannaccone, Nigel G. Laing, Carina Wallgren-Pettersson
Human Mutation, January 2006, Wiley
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