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Article

Interspecies Variation in the Functional Consequences of Mutation of Cytochrome c.

PloS one - 1 Jan 2015

Josephs Tracy M, Hibbs Moira E, Ong Lily, Morison Ian M, Ledgerwood Elizabeth C

Abstract excerpt

The naturally occurring human cytochrome c variant (G41S) is associated with a mild autosomal dominant thrombocytopenia (Thrombocytopenia Cargeeg) caused by dysregulation of platelet production. The molecular basis of the platelet production defect is unknown. Despite high conservation of cytochrome c between human and mouse (91.4% identity), introducing the G41S mutation into mouse cytochrome c in a knockin...

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Identifiers

PMID: 26086723
DOI: 10.1371/journal.pone.0130292
PMCID: PMC4472513

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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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