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Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis.

Xiuping WangXiaoliang OuyangDeng ZhangYunxia ZhuLiang WuZhen XiaoSimin YuWei LiChunming Li
Published in: Clinical, cosmetic and investigational dermatology (2024)
Our results extended the mutation spectrum of mevalonate pathway genes in porokeratosis and provided useful strategies for a more accurate diagnosis and genetic counseling.
Keyphrases
  • genome wide
  • bioinformatics analysis
  • genome wide identification
  • high resolution
  • mass spectrometry
  • transcription factor
  • hepatitis c virus