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Abnormal distribution of cell junction proteins in buccal mucosal cells

MedGen UID:
1381252
Concept ID:
C4477067
Finding
HPO: HP:0410023

Definition

An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal distribution of cell junction proteins in buccal mucosal cells

Recent clinical studies

Diagnosis

Asimaki A, Protonotarios A, James CA, Chelko SP, Tichnell C, Murray B, Tsatsopoulou A, Anastasakis A, te Riele A, Kléber AG, Judge DP, Calkins H, Saffitz JE
Circ Arrhythm Electrophysiol 2016 Feb;9(2):e003688. doi: 10.1161/CIRCEP.115.003688. PMID: 26850880Free PMC Article

Supplemental Content

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