Dataset for a case report of a homozygous PEX16 F332del mutation

Carlos Bacino, Yu Hsin Chao, Elaine Seto, Tim Lotze, Fan Xia, Richard O. Jones, Ann Moser, Michael F. Wangler

Research output: Contribution to journalArticlepeer-review

Abstract

This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in Molecular Genetics and Metabolism Reports was ultimately diagnosed with an atypical peroxisomal disorder on exome sequencing. A clinical timeline and diagnostic summary, results of an extensive plasma and fibroblast analysis of this patient's peroxisomal profile is provided. In addition, a table of additional variants from the exome analysis is provided.

Original languageEnglish (US)
Pages (from-to)722-727
Number of pages6
JournalData in Brief
Volume6
DOIs
StatePublished - Mar 1 2016

ASJC Scopus subject areas

  • General

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