Work

Genetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalemia.

Year: 1999

Type: letter

Abstract: The hereditary stomatocytoses (HSt) are a group of rare, dominantly inherited hemolytic anemias showing abnormal membrane permeability to the univalent cations Na+ and K+. The pseudohyperkalemic variants are genetically heterogenous with a locus on 16q23 and at least one additional locus, which remains to be mapped.

Source: PubMed

Authors: M Carella, G W Stewart, J F Ajetunmobi, F Schettini, J Delaunay, A Iolascon

Institution: Casa Sollievo della Sofferenza

Language: English

Topic: Erythrocyte Function and Pathophysiology

Subfield: Physiology (medical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Wellcome Trust

OpenAlex ID: W1988787

Cites: 24

Cited by: 13

Related to: 10