Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

@article{Kitanaka1998InactivatingMI,
  title={Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.},
  author={Sachiko Kitanaka and Ken-ichi Takeyama and Akiko Murayama and Tai Sato and Kenji Okumura and Masahiro Nogami and Yukihiro Hasegawa and Hiroo Niimi and Junn Yanagisawa and Toshihiro Tanaka and Souichirou Kato},
  journal={The New England journal of medicine},
  year={1998},
  volume={338 10},
  pages={
          653-61
        }
}
BACKGROUND Pseudovitamin D-deficiency rickets is characterized by the early onset of rickets with hypocalcemia and is thought to be caused by a deficit in renal 25-hydroxyvitamin D3 1alpha-hydroxylase, the key enzyme for the synthesis of 1alpha,25-dihydroxyvitamin D3. METHODS We cloned human 25-hydroxyvitamin D3 1alpha-hydroxylase complementary DNA (cDNA) using a mouse 1alpha-hydroxylase cDNA fragment as a probe. Its genomic structure was determined, and its chromosomal location was mapped by… CONTINUE READING
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