UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

A large fraction of DNA variants impairs pre-mRNA splicing in human hereditary disorders. Crigler-Najjar syndrome (CNS) is characterized by a severe unconjugated hyperbilirubinemia caused by variants in the UGT1A1 gene. We previously reported one CNS-type II patient with two splice-site variants in...

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Detalles Bibliográficos
Autores principales: Gailite, Linda, Valenzuela-Palomo, Alberto, Sanoguera-Miralles, Lara, Rots, Dmitrijs, Kreile, Madara, Velasco, Eladio A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067894/
https://www.ncbi.nlm.nih.gov/pubmed/32211025
http://dx.doi.org/10.3389/fgene.2020.00169

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067894/
https://www.ncbi.nlm.nih.gov/pubmed/32211025
http://dx.doi.org/10.3389/fgene.2020.00169

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