Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Nucleoporins build the nuclear pore complex (NPC), which, as sole gate for nuclear-cytoplasmic exchange, is of outmost importance for normal cell function. Defects in the process of nucleocytoplasmic transport or in its machinery have been frequently described in human diseases, such as cancer and n...

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Detalles Bibliográficos
Autores principales: Bonnin, Edith, Cabochette, Pauline, Filosa, Alessandro, Jühlen, Ramona, Komatsuzaki, Shoko, Hezwani, Mohammed, Dickmanns, Achim, Martinelli, Valérie, Vermeersch, Marjorie, Supply, Lynn, Martins, Nuno, Pirenne, Laurence, Ravenscroft, Gianina, Lombard, Marcus, Port, Sarah, Spillner, Christiane, Janssens, Sandra, Roets, Ellen, Van Dorpe, Jo, Lammens, Martin, Kehlenbach, Ralph H., Ficner, Ralf, Laing, Nigel G., Hoffmann, Katrin, Vanhollebeke, Benoit, Fahrenkrog, Birthe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307818/
https://www.ncbi.nlm.nih.gov/pubmed/30543681
http://dx.doi.org/10.1371/journal.pgen.1007845

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