Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation
Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Håvik B, Tønder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM. Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation. New England Journal Of Medicine 2012, 366: 1586-1595. PMID: 22436048, DOI: 10.1056/nejmoa1110132.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane regulatorEntire candidate regionCandidate regionsExons of genesHEK293T cellsAffected family membersCyclic guanosine monophosphateSingle nucleotide polymorphismsBacterial heat-stable enterotoxinsFamily membersMutant receptorsChromosome 12GC-C signalingMutant GcRecessive mutationsLinkage analysisTransmembrane regulatorFunctional studiesMissense mutationsGenetic variantsHeterozygous missense mutationMutationsExome sequencingGUCY2C mutationGenes