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Paper Details

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> Variants.
J Clin Med
15
2019
Bi, OXPHPOS, PNPT1, PNPT1 Variants, PNPT1 transcripts, PNPT1 variants, PNPase, Patient, RNA, fibroblasts, interferon, mitochondrial unprocessed, patients, polynucleotide phosphorylase, respiratory chain complex defects
Author NameAffiliation
Alison G ComptonMurdoch Children's Research Institute
Alison G ComptonUniversity of Melbourne
Mark J CowleyChildren's Cancer Institute
Mark J CowleyKinghorn Centre for Clinical Genomics, Garvan Institute, University of New South Wales
Mark J CowleyUniversity of New South Wales
Mary Kay KoenigThe University of Texas McGovern Medical School
Gregory M EnnsStanford University
David R ThorburnMurdoch Children's Research Institute
David R ThorburnVictorian Clinical Genetic Services
David R ThorburnUniversity of Melbourne
John ChristodoulouMurdoch Children's Research Institute
John ChristodoulouUniversity of Melbourne
John ChristodoulouSydney Medical School, University of Sydney
John ChristodoulouVictorian Clinical Genetic Services
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