X-linked hypophosphatemia (XLH): Mutations compromising PHEX structure reflect a severe phenotype

Ижил төстэй зүйлс

• Mutational analysis of PHEX gene in X-linked hypophosphatemia.
  -н: Dixon, P, зэрэг
  Хэвлэсэн: (1998)
• X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.
  -н: Christie, P, зэрэг
  Хэвлэсэн: (2001)
• Expression and cloning of the human X-linked hypophosphatemia gene cDNA.
  -н: Grieff, M, зэрэг
  Хэвлэсэн: (1997)
• P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022
  -н: Nicole Miller, зэрэг
  Хэвлэсэн: (2023-01-01)
• X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
  -н: Christie, P, зэрэг
  Хэвлэсэн: (2000)