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Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Meredith J Ventura1, Dianna Wheaton2, Mingchu Xu3

  • 1School of Medicine, Baylor College of Medicine, Houston, TX 77030, United States.

Molecular Genetics and Metabolism Reports
|November 23, 2016
PubMed

Keywords:
PEX1 p.G843DPeroxisomal biogenesis disordersUsher syndromeZellweger syndrome spectrum

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