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Article

Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia

25 Oct 2012

Abstract excerpt

Familial Pseudohyperkalemia (FP) is a dominant red cell trait characterized by increased serum [K(+)] in whole blood stored at or below room temperature, without additional hematological abnormalities. Functional gene mapping and sequencing analysis of the candidate genes within the 2q35-q36 critical interval identified-in 20 affected individuals among three multigenerational FP families-two novel heterozygous...

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PMID: 23180570
DOI: 10.1002/ajh.23357

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