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Article

The role of novel COQ8B mutations in glomerulopathy and related kidney defects.

American journal of medical genetics. Part A - 1 Jan 2021

AbuMaziad Asmaa S, Thaker Tarjani M, Tomasiak Thomas M, Chong Chyi Chyi, Galindo Maureen K, Hoyme H Eugene

Abstract excerpt

BACKGROUND AND OBJECTIVES: Glomerulopathies affect kidney glomeruli and can lead to end-stage renal disease if untreated. Clinical and experimental evidence have identified numerous (>20) genetic mutations in the mitochondrial coenzyme Q8B protein (COQ8B) primarily associated with nephrotic syndrome. Yet, little else is understood about COQ8B activity in renal pathogenesis and its role in mitochondrial...

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Identifiers

PMID: 33084234
DOI: 10.1002/ajmg.a.61909

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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