Dataset for a case report of a homozygous PEX16 F332del mutation

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 pero...

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Detalles Bibliográficos
Autores principales: Bacino, Carlos, Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Data Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737951/
https://www.ncbi.nlm.nih.gov/pubmed/26870756
http://dx.doi.org/10.1016/j.dib.2015.12.011
Descripción
Sumario: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.

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