Article
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
European journal of human genetics : EJHG - 1 Dec 2018
Molinari Elisa, Decker Eva, Mabillard Holly, Tellez James, Srivastava Shalabh, Raman Shreya, Wood Katrina, Kempf Caroline, Alkanderi Sumaya, Ramsbottom Simon A, Miles Colin G, Johnson Colin A, Hildebrandt Friedhelm, Bergmann Carsten, Sayer John A
Abstract excerpt
The majority of multi-exon genes undergo alternative splicing to produce different mRNA transcripts and this may occur in a tissue-specific manner. Assessment of mRNA transcripts isolated from blood samples may sometimes be unhelpful in determining the affect on function of putative splice-site variants affecting kidney-specific mRNA transcripts. Here we present data demonstrating the power of using human...
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