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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:PLoS Genet
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Public Library of Science 2018
Θέματα:
Research Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6307818/
https://ncbi.nlm.nih.gov/pubmed/30543681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007845
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