| 1 |
Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome
Teresa-Rodrigo ME, Eckhold J, Puisac B, Dalski A, Gil-Rodriguez MC, Braunholz D, Baquero C, Hernandez-Marcos M, de Karam JC, Ciero M, Santos-Simarro F, Lapunzina P, Wierzba J, Casale CH, Ramos FJ, Gillessen-Kaesbach G, Kaiser FJ, Pie J
International Journal of Molecular Sciences, 15(6), 10350, 2014 |
