De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature

J Paediatr Child Health. 2021 Aug;57(8):1305-1307. doi: 10.1111/jpc.15148. Epub 2020 Nov 13.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Kidney Diseases* / genetics
  • Mutation
  • Phenotype
  • SEC Translocation Channels / genetics*

Substances

  • SEC Translocation Channels
  • SEC61A1 protein, human