Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.

Eitemau Tebyg

• X-linked hypophosphataemic rickets in a Saudi Arabian kindred results from a nonsense mutation of the PEX gene.
  gan: Dixon, P, et al.
  Cyhoeddwyd: (1997)
• X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
  gan: Christie, P, et al.
  Cyhoeddwyd: (2000)
• Mutations of the PEX regulatory and C-terminal regions cause X-linked hypophosphataemia.
  gan: Dixon, P, et al.
  Cyhoeddwyd: (1997)
• Bridging markers defining the map position of X linked hypophosphataemic rickets.
  gan: Thakker, R, et al.
  Cyhoeddwyd: (1987)
• Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
  gan: Read, A, et al.
  Cyhoeddwyd: (1986)