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A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.

Mami ChiharaAkihiko AsahinaMunenari Itoh
Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2020)
Keyphrases
  • case report
  • copy number
  • genome wide
  • genome wide identification
  • protein kinase
  • gene expression
  • dna methylation
  • transcription factor