Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets

Míreanna Comhchosúla

• Vitamin D Receptor Mutations in Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
  le: Malloy, Peter J., et al.
  Foilsithe: (2013)
• Compound Heterozygous Mutations in the Vitamin D Receptor in a Patient With Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets With Alopecia
  le: Zhou, Yulin, et al.
  Foilsithe: (2009)
• Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
  le: Malloy, Peter J., et al.
  Foilsithe: (2010)
• Hereditary Vitamin D Resistant Rickets: Identification of a Novel Splice Site Mutation in the Vitamin D Receptor Gene and Successful Treatment with Oral Calcium Therapy
  le: Ma, Nina S., et al.
  Foilsithe: (2009)
• Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.
  le: Malloy, P J, et al.
  Foilsithe: (1997)