Related Experiment Video

Updated: Jul 18, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

Judith Fischer1, Caroline Lefèvre, Eva Morava

  • 1Centre National de Génotypage, 91057 Evry Cedex, France. fischer@cng.fr

Nature Genetics
|December 26, 2006
PubMed

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