Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy

Por Arts, H, Schmidts, M, Bongers, EMHF, Oud, MM, Duijkers, LEM, Yap, Z, Stalker, J, Yntema, JL, Hoischen, A, Gilissen, C, Veltman, JA, Kutkowska-Kaźmierczak, A, Kamsteeg, EJ, Scambler, PJ, Beales, PL, Knoers, NVAM, Roepman, R, Mitchison, HM
Publicado em 2012