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Article

Cooperating G6PD mutations associated with severe neonatal hyperbilirubinemia and cholestasis.

Pediatric blood & cancer - 1 May 2011

Mizukawa Benjamin, George Alex, Pushkaran Suvarnamala, Weckbach Lana, Kalinyak KarenAnn, Heubi James E, Kalfa Theodosia A

Abstract excerpt

We report a novel glucose-6-phosphate dehydrogenase (G6PD) mutation, which we propose to name G6PD Cincinnati (c.1037A > T, p.N346I), found in combination with G6PD Gastonia (c.637G > T, p.V213L) in an infant who presented with neonatal cholestasis. The G6PD Cincinnati mutation results in a non-conservative amino acid substitution at the tetramer interface disturbing its formation, as seen by native gel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hyperbilirubinemia, Neonatal

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Share to Sequence Homology, Amino Acid

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Identifiers

PMID: 20949590
DOI: 10.1002/pbc.22744
PMCID: PMC3023834

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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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