Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-stranded fiber wrapped around a histone octamer. This organization supports cellular processes such as DNA replication, DNA transcription, and DNA repair in all eukaryotes. Human histone H4 is encoded by fourt...

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Detaylı Bibliyografya
Asıl Yazarlar: Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften
Materyal Türü: Artigo
Dil:İngilizce
Baskı/Yayın Bilgisi: 2022
Online Erişim:https://doi.org/10.1016/j.ajhg.2022.02.003
https://www.cell.com/article/S0002929722000544/pdf
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