Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

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

Publisher： MDPI

E-ISSN： 1422-0067|15|6|10350-10364

ISSN： 1422-0067

Source： International Journal of Molecular Sciences, Vol.15, Iss.6, 2014-06, pp. : 10350-10364

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