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Article

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.

Haematologica - 1 Aug 2016

Andolfo Immacolata, Russo Roberta, Manna Francesco, De Rosa Gianluca, Gambale Antonella, Zouwail Soha, Detta Nicola, Pardo Catia Lo, Alper Seth L, Brugnara Carlo, Sharma Alok K, De Franceschi Lucia, Iolascon Achille

Abstract excerpt

Isolated familial pseudohyperkalemia is a dominant red cell trait characterized by cold-induced 'passive leak' of red cell potassium ions into plasma. The causative gene of this condition is ABCB6, which encodes an erythrocyte membrane ABC transporter protein bearing the Langereis blood group antigen system. In this study analyzing three new families, we report the first functional characterization of ABCB6...

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Identifiers

PMID: 27151991
DOI: 10.3324/haematol.2016.142372
PMCID: PMC4967569

Genes

ABCB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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