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.

Autor: Puisac, Beatriz1 puisac@unizar.es, Teresa-Rodrigo, María-Esperanza1 eteresa@unizar.es, Hernández-Marcos, María1 mhmarcos@unizar.es, Baquero-Montoya, Carolina2 carobaque@gmail.com, Gil-Rodríguez, María-Concepción1 mcgil@unizar.es, Visnes, Torkild3 Torkild.Visnes@ki.se, Bot, Christopher3 Christopher.Bot@ki.se, Gómez-Puertas, Paulino4 pagomez@cbm.csic.es, Kaiser, Frank J.5 frank.kaiser@uk-sh.de, Ramos, Feliciano J.1,6 framos@unizar.es, Ström, Lena3 Lena.Strom@ki.se, Pié, Juan1 juanpie@unizar.es
Zdroj: International Journal of Molecular Sciences. Mar2017, Vol. 18 Issue 3, p481. 12p. 1 Chart, 2 Graphs.
Databáze: Academic Search Ultimate