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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Front Genet
Autors principals: 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
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
Matèries:
Genetics
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars