Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with cornelia de lange syndrome

María E. Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Andreas Dalski, María C. Gil-Rodríguez, Diana Braunholz, Carolina Baquero, María Hernández-Marcos, Juan C. de Karam, Milagros Ciero, Fernando Santos-Simarro, Pablo Lapunzina, Jolanta Wierzba, César H. Casale, Feliciano J. Ramos, Gabriele Gillessen-Kaesbach, Frank J. Kaiser, Juan Pié

6 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology