Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

X-linked intellectual disability (XLID) is known to explain up to 10% of the intellectual disability in males. A large number of families in which intellectual disability is the only clinically consistent manifestation have been described. While linkage analysis and candidate gene testing were the i...

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Bibliografski detalji
Izdano u:Front Genet
Glavni autori: Tejada, María Isabel, Villate, Olatz, Ibarluzea, Nekane, de la Hoz, Ana Belén, Martínez-Bouzas, Cristina, Beristain, Elena, Martínez, Francisco, Friez, Michael J., Sobrino, Beatriz, Barros, Francisco
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2019
Teme:
Genetics
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6836624/
https://ncbi.nlm.nih.gov/pubmed/31737052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.01074
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