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Deletions in the 5' region of dystrophin and resulting phenotypes.
Muntoni F, Gobbi P, Sewry C, Sherratt T, Taylor J, Sandhu SK, Abbs S, Roberts R, Hodgson SV, Bobrow M, et al. Muntoni F, et al. Among authors: gobbi p. J Med Genet. 1994 Nov;31(11):843-7. doi: 10.1136/jmg.31.11.843. J Med Genet. 1994. PMID: 7853367 Free PMC article.
An unusual case of hyperekplexia.
Jungbluth H, Rees MI, Manzur AY, Mercuri E, Sewry CA, Gobbi P, Muntoni F. Jungbluth H, et al. Among authors: gobbi p. Eur J Paediatr Neurol. 2000;4(2):77-80. doi: 10.1053/ejpn.1999.0267. Eur J Paediatr Neurol. 2000. PMID: 10817489
282 results