A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

We investigated two siblings with granulomatous histiocytosis prominent in the nasal area, mimicking rhinoscleroma and Rosai-Dorfman syndrome. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous frameshift deletion in SLC29A3, which encodes human equilibrative nucleoside...

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Detalles Bibliográficos
Autores principales: Bolze, Alexandre, Abhyankar, Avinash, Grant, Audrey V., Patel, Bhavi, Yadav, Ruchi, Byun, Minji, Caillez, Daniel, Emile, Jean-Francois, Pastor-Anglada, Marçal, Abel, Laurent, Puel, Anne, Govindarajan, Rajgopal, de Pontual, Loic, Casanova, Jean-Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251605/
https://www.ncbi.nlm.nih.gov/pubmed/22238637
http://dx.doi.org/10.1371/journal.pone.0029708

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251605/
https://www.ncbi.nlm.nih.gov/pubmed/22238637
http://dx.doi.org/10.1371/journal.pone.0029708

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