Related Experiment Video

Updated: Sep 30, 2026

High-throughput Screening for Protein-based Inheritance in S. cerevisiae
08:12

High-throughput Screening for Protein-based Inheritance in S. cerevisiae

Published on: August 8, 2017

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

Mary Anna Carbone1, Derek A Applegarth, Brian H Robinson

  • 1Research Institute, Hospital for Sick Children and the Department of Biochemistry at the University of Toronto, Toronto, Ontario, Canada.

Human Mutation
|July 12, 2002
PubMed

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