High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Autor: Gergics, Peter 1, 19, Smith, Cathy 1, 2, 19, Bando, Hironori 1, 14, 19, Jorge, Alexander A.L. 3, 19, Rockstroh-Lippold, Denise 4, 15, 19, Vishnopolska, Sebastian A. 5, 19, Castinetti, Frederic 6, 19, Maksutova, Mariam 1, Carvalho, Luciani Renata Silveira 7, Hoppmann, Julia 4, 16, Martínez Mayer, Julián 5, Albarel, Frédérique 6, Braslavsky, Debora 8, Keselman, Ana 8, Bergadá, Ignacio 8, Martí, Marcelo A. 9, Saveanu, Alexandru 10, Barlier, Anne 10, Abou Jamra, Rami 11, Guo, Michael H. 12, 17, Dauber, Andrew 13, 18, Nakaguma, Marilena 7, Mendonca, Berenice B. 7, Jayakody, Sajini N. 1, Ozel, A. Bilge 1, Fang, Qing 1, Ma, Qianyi 1, Li, Jun Z. 1, Brue, Thierry 6, 20, Pérez Millán, María Ines 5, 20, Arnhold, Ivo J.P. 7, 20, Pfaeffle, Roland 4, 11, 20, Kitzman, Jacob O. 1, 2, 20, ∗∗, Camper, Sally A. 1, 20, ∗
Zdroj: In The American Journal of Human Genetics 5 August 2021 108(8):1526-1539
Databáze: ScienceDirect