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Article

The molecular basis of vitamin D-dependent rickets type I.

Endocrine journal - 1 Aug 2001

Kitanaka S, Takeyama K, Murayama A, Kato S

Abstract excerpt

Vitamin D 1alpha-hydroxylase is a key enzyme for the vitamin D-calcium homeostasis. Recently, 1alpha-hydroxylase cDNA and gene were cloned. Human 1alpha-hydroxylase gene is located at chromosome 12q13.3. Several inactivating mutations in the 1alpha-hydroxylase gene were found in VDDR I patients, and it was established that 1alpha-hydroxylase gene is responsible for VDDR I. To date, various mutations spreading...

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Share to 25-Hydroxyvitamin D3 1-alpha-Hydroxylase
Share to Chromosomes, Human, Pair 12
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11603564
DOI: 10.1507/endocrj.48.427

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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