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

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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Bibliographic Details
Main Authors: Linda Gailite, Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Dmitrijs Rots, Madara Kreile, Eladio A. Velasco
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-03-01
Series:Frontiers in Genetics
Subjects:
UGT1A1
unconjugated hyperbilirubinemia
Crigler-Najjar
aberrant splicing
minigene
splice site
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00169/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00169/full

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