Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Παρόμοια τεκμήρια

• Windswept lower limb deformities in patients with hypophosphataemic rickets
  ανά: Ali Al Kaissi, κ.ά.
  Έκδοση: (2013-12-01)
• Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
  ανά: Dixon, P, κ.ά.
  Έκδοση: (1996)
• Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
  ανά: Read, A, κ.ά.
  Έκδοση: (1986)
• X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
  ανά: Christie, P, κ.ά.
  Έκδοση: (2000)
• Bridging markers defining the map position of X linked hypophosphataemic rickets.
  ανά: Thakker, R, κ.ά.
  Έκδοση: (1987)