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
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author Bacino, Carlos
Chao, Yu-Hsin
Seto, Elaine
Lotze, Tim
Xia, Fan
Jones, Richard O.
Moser, Ann
Wangler, Michael F.
author_facet Bacino, Carlos
Chao, Yu-Hsin
Seto, Elaine
Lotze, Tim
Xia, Fan
Jones, Richard O.
Moser, Ann
Wangler, Michael F.
author_sort Bacino, Carlos
collection PubMed
description 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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spelling pubmed-47379512016-02-11 Dataset for a case report of a homozygous PEX16 F332del mutation Bacino, Carlos Chao, Yu-Hsin Seto, Elaine Lotze, Tim Xia, Fan Jones, Richard O. Moser, Ann Wangler, Michael F. Data Brief Data Article 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. Elsevier 2015-12-17 /pmc/articles/PMC4737951/ /pubmed/26870756 http://dx.doi.org/10.1016/j.dib.2015.12.011 Text en © 2016 Published by Elsevier Inc. http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Data Article
Bacino, Carlos
Chao, Yu-Hsin
Seto, Elaine
Lotze, Tim
Xia, Fan
Jones, Richard O.
Moser, Ann
Wangler, Michael F.
Dataset for a case report of a homozygous PEX16 F332del mutation
title Dataset for a case report of a homozygous PEX16 F332del mutation
title_full Dataset for a case report of a homozygous PEX16 F332del mutation
title_fullStr Dataset for a case report of a homozygous PEX16 F332del mutation
title_full_unstemmed Dataset for a case report of a homozygous PEX16 F332del mutation
title_short Dataset for a case report of a homozygous PEX16 F332del mutation
title_sort dataset for a case report of a homozygous pex16 f332del mutation
topic Data Article
url 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
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