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

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

*Corresponding author for this work
1 Citation (Scopus)

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Medicine & Life Sciences