Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

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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Bibliographic Details
Main Authors: Edith Bonnin, Pauline Cabochette, Alessandro Filosa, Ramona Jühlen, Shoko Komatsuzaki, Mohammed Hezwani, Achim Dickmanns, Valérie Martinelli, Marjorie Vermeersch, Lynn Supply, Nuno Martins, Laurence Pirenne, Gianina Ravenscroft, Marcus Lombard, Sarah Port, Christiane Spillner, Sandra Janssens, Ellen Roets, Jo Van Dorpe, Martin Lammens, Ralph H Kehlenbach, Ralf Ficner, Nigel G Laing, Katrin Hoffmann, Benoit Vanhollebeke, Birthe Fahrenkrog
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-12-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1007845

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https://doi.org/10.1371/journal.pgen.1007845

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