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

Autor: Jühlen, Ramona1, Hezwani, Mohammed1, Martinelli, Valérie1, Martins, Nuno1, Pirenne, Laurence1, Fahrenkrog, Birthe1, Bonnin, Edith1,2, Janssens, Sandra3, Roets, Ellen4, Lammens, Martin5, Cabochette, Pauline2, Vanhollebeke, Benoit2,6, Filosa, Alessandro7, Komatsuzaki, Shoko7, Hoffmann, Katrin7, Dickmanns, Achim7, Ficner, Ralf7, Vermeersch, Marjorie7, Supply, Lynn7, Van Dorpe, Jo7
Zdroj: PLoS Genetics. 12/13/2018, Vol. 14 Issue 12, p1-27. 27p.
Databáze: Academic Search Ultimate
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