A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1

Myrte Daenen, Marguerite Hureaux^*, Emma Ashton, Francesca Becherucci, Ian Barry, Marcus Benz, Anna Bjerre, Andrew Buckton, Richard Caswell, Celia Duff-Farrier, Samantha Hayward, Joseph Mcallister, Anna Moczulska, Viviana Palazzo, Caroline Platt, Hitesh Prajapati, Moin Saleem, Karl-Peter Schlingmann, Francisco Telma, Marcin ZaniewFrancesco Emma, Detlef Bockenhauer^*

^*Corresponding author for this work

Bristol Medical School (THS)
Bristol Medical School
Bristol Doctoral College

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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The role of DNA methylation in stratifying and understanding paediatric nephrotic syndrome - a combined bioinformatics and CRISPR-cas9 approach
Hayward, S. (Principal Investigator)
1/09/21 → 1/07/25
Project: Research

A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1

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The role of DNA methylation in stratifying and understanding paediatric nephrotic syndrome - a combined bioinformatics and CRISPR-cas9 approach