Related Experiment Video

Updated: Jun 24, 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

ACOX1 Gain-of-Function and De Novo ROBO1 Variant in ACOX1-sEDD

Jose Molina-Espinosa1,2, Israel Pérez-López1, Raquel González-Villén3

  • 1Dermatology Unit, San Cecilio University Clinical Hospital, Granada, Spain.

Pediatric Dermatology
|June 22, 2026
PubMed

Keywords:
ACOX1ACOX1‐sEDDmetabolic encephalopathyoxidative stressperoxisomal β‐oxidation

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