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Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia.

Hossein AnsariJavad Mohammadi-AslMohammadreza HajjariMaryam Tahmasebi BirganiAbolghasem KollaeeFarzad Jassemi-ZerganiAmin Vakili-Hajiagha
Published in: The journal of gene medicine (2019)
The findings of the present study suggest consideration of the c.896 G>A variant of the COMP gene with respect to the genetic counseling of inherited skeletal dysplasia in Iran.
Keyphrases
  • copy number
  • genome wide
  • single cell
  • genome wide identification
  • dna methylation
  • genome wide analysis
  • hiv testing
  • transcription factor
  • hiv infected
  • men who have sex with men