mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

Author： Puisac Beatriz   Teresa-Rodrigo María-Esperanza   Hernández-Marcos María   Baquero-Montoya Carolina   Gil-Rodríguez María-Concepción   Visnes Torkild   Bot Christopher   Gómez-Puertas Paulino   Kaiser Frank J.   Ramos Feliciano J.   Ström Lena   Pié Juan  

Publisher： MDPI

E-ISSN： 1422-0067|18|3|481-481

ISSN： 1422-0067

Source： International Journal of Molecular Sciences, Vol.18, Iss.3, 2017-02, pp. : 481-481

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