Dataset for a case report of a homozygous PEX16 F332del mutation.
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ABSTRACT:
SUBMITTER: Bacino C
PROVIDER: S-EPMC4737951 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
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Dataset for a case report of a homozygous PEX16 F332del mutation.
Bacino Carlos C Chao Yu-Hsin YH Seto Elaine E Lotze Tim T Xia Fan F Jones Richard O RO Moser Ann A Wangler Michael F MF
Data in brief 20151217
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, ...[more]
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