Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

The spf/ash mouse model of ornithine transcarbamylase (OTC) deficiency, a severe urea cycle disorder, is caused by a mutation (c.386G>A; p.R129H) in the last nucleotide of exon 4 of the Otc gene, affecting the 5’ splice site and resulting in partial use of a cryptic splice site 48 bp into the adj...

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Detalles Bibliográficos
Autores principales: Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390381/
https://www.ncbi.nlm.nih.gov/pubmed/25853564
http://dx.doi.org/10.1371/journal.pone.0122966

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390381/
https://www.ncbi.nlm.nih.gov/pubmed/25853564
http://dx.doi.org/10.1371/journal.pone.0122966

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