Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
Katarina Pelin(University of Helsinki), Carina Wallgren‐Pettersson(University of Helsinki), Victor Dubowitz(Institute of Genetics), Kati Donner(University of Helsinki), Nigel G. Laing(Harry Perkins Institute of Medical Research), Duangrurdee Wattanasirichaigoon(Mahidol University), Siegfried Labeit(Heidelberg University), Caroline A. Sewry(Great Ormond Street Hospital), Alan H. Beggs(Boston Children's Hospital), P. Anthony Akkari(Murdoch University), Albert de la Chapelle(Université Claude Bernard Lyon 1), Sylvie Odent(Institut de génétique et de développement de Rennes), Marie‐Louise Bang(IRCCS Humanitas Research Hospital), Michel Fardeau(Sorbonne Université), Francesco Muntoni(Great Ormond Street Hospital), Pirta Hilpelä(Institute of Genetics), Jon Andoni Urtizberea(Institute of Genetics), F. Hanefeld(Institute of Genetics), Thomas Centner(Institute of Genetics)
Cited by 332
Related Papers
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency
|New England Journal of Medicine|2015|9.4k
Mutation of a <i>mutL</i> Homolog in Hereditary Colon Cancer
|Science|1994|1.8k
Genotype-Phenotype Correlation in the Long-QT Syndrome
|Circulation|2001|1.8k