A patient with multisystem dysfunction carries a truncation mutation in human , the gene encoding the Na-K-2Cl cotransporter, NKCC1.

Delpire E, Wolfe L, Flores B, Koumangoye R, Schornak CC, Omer S, Pusey B, Lau C, Markello T, Adams DR
Cold Spring Harb Mol Case Stud. 2016 2 (6): a001289

PMID: 27900370 · PMCID: PMC5111002 · DOI:10.1101/mcs.a001289

MeSH Terms (15)

Adolescent Alleles Carrier Proteins Cell Membrane Chlorides Female Fibroblasts Humans Mutation Sequence Deletion Sodium Sodium, Dietary Sodium-Potassium-Chloride Symporters Solute Carrier Family 12, Member 2 Whole Exome Sequencing

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