Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

著者: Behzad Moghadaszadeh, Nathalie Petit, Céline Jaillard, Martin Brockington, Susana Quijano Roy, Luciano Merlini, Norma B. Romero, B. Estournet, Isabelle Desguerre, Denys Chaigne, Francesco Muntoni, Haluk Topaloğlu, Pascale Guicheney - Nature Genetics 2001 被引用: 365