Insertion of LINE-1 Retrotransposon Inducing Exon Inversion Causes a Rotor Syndrome Phenotype

Rotor syndrome, a rare autosomal-recessive genetic disorder characterized by conjugated hyperbilirubinemia, is caused by biallelic pathogenic variants in both SLCO1B1 and SLCO1B3 genes. Long interspersed nuclear elements (LINEs) make up about 17% of the human genome and insertion of LINE-1 in genes...

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Detalles Bibliográficos
Autores principales: Zhou, Donghu, Qi, Saiping, Zhang, Wei, Wu, Lina, Xu, Anjian, Li, Xiaojin, Zhang, Bei, Li, Yanmeng, Jia, Siyu, Wang, Hejing, Jia, Jidong, Ou, Xiaojuan, Huang, Jian, You, Hong
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/PMC7005217/
https://www.ncbi.nlm.nih.gov/pubmed/32082363
http://dx.doi.org/10.3389/fgene.2019.01399

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