Inactivating Mutations in the 25-Hydroxyvitamin D31α-Hydroxylase Gene in Patients with Pseudovitamin D–Deficiency Rickets
Open Access
- 5 March 1998
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 338 (10) , 653-662
- https://doi.org/10.1056/nejm199803053381004
Abstract
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 1α-hydroxylase, the key enzyme for the synthesis of 1α,25-dihydroxyvitamin D3.Keywords
This publication has 34 references indexed in Scilit:
- A New Compound Heterozygous Mutation in the 11 -Hydroxysteroid Dehydrogenase Type 2 Gene in a Case of Apparent Mineralocorticoid ExcessJournal of Clinical Endocrinology & Metabolism, 1997
- Retinoic Acid Differentially Up-Regulates the Gene Expression of Retinoic Acid Receptor α and γ Isoforms in Embryo and Adult RatsBiochemical and Biophysical Research Communications, 1996
- The Genes for the α-Type HC3 (PMSA2) and β-Type HC5 (PMSB1) Subunits of Human Proteasomes Map to Chromosomes 6q27 and 7p12-p13 by Fluorescence in Situ HybridizationGenomics, 1995
- Constitutive synthesis of 1,25-dihydroxyvitamin D3 by a human small cell lung cancer cell lineJournal of Clinical Endocrinology & Metabolism, 1994
- The P450 Superfamily: Update on New Sequences, Gene Mapping, Accession Numbers, Early Trivial Names of Enzymes, and NomenclatureDNA and Cell Biology, 1993
- The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families.Journal of Clinical Investigation, 1990
- Molecular cloning and sequence analysis of cDNA encoding rat adrenal cytochrome P‐45011βFEBS Letters, 1989
- Vitamin D dependency: Replacement therapy with calcitriolThe Journal of Pediatrics, 1981
- Late presentation of vitamin D-dependent rickets.Archives of Disease in Childhood, 1980
- Serum 1,25-Dihydroxyvitamin D Levels in Normal Subjects and in Patients with Hereditary Rickets or Bone DiseaseNew England Journal of Medicine, 1978