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

Citation
Puisac, B., Teresa-Rodrigo, M.-E., Hernández-Marcos, M., Baquero-Montoya, C., Gil-Rodríguez, M.-C., Visnes, T., Bot, C., Gómez-Puertas, P., Kaiser, F., Ramos, F., Ström, L., & Pié, J. (2017). 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. International Journal of Molecular Sciences, 18(3), 481. https://doi.org/10.3390/ijms18030481
DOI:
DOI: 10.3390/ijms18030481
Year of publication:
2017
Authors participating in BCBHub:
Paulino Gomez-Puertas