A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing

Lignende værker

• Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy
  af: Chaiyasap, Pongsathorn, et al.
  Udgivet: (2014)
• A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
  af: Tongkobpetch, Siraprapa, et al.
  Udgivet: (2017)
• A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2
  af: Nalinee Hemwong, et al.
  Udgivet: (2020-01-01)
• A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2
  af: Hemwong, Nalinee, et al.
  Udgivet: (2019)
• PDGFRa mutations in humans with isolated cleft palate
  af: Rattanasopha, Sawitree, et al.
  Udgivet: (2012)