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Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome.

Yukimasa TaniguchiChina NaganoKiyotoshi SekiguchiAtsushi TashiroNoriko SugawaraHaruhide SakaguchiChisato UmedaYuya AotoShinya IshikoRini RossantiNana SakakibaraTomoko HorinouchiTomohiko YamamuraAtsushi KondoSadayuki NagaiHiroaki NagaseKazumoto IijimaJeffrey H MinerKandai Nozu
Published in: Kidney360 (2021)
variant screening should be performed in patients with congenital/infantile nephrotic syndrome.
Keyphrases
  • copy number
  • genome wide
  • intellectual disability
  • muscular dystrophy
  • genome wide identification
  • dna methylation
  • gene expression
  • transcription factor
  • duchenne muscular dystrophy