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Article

Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Aug 2007

Kim Chan Jong, Kaplan Larry E, Perwad Farzana, Huang Ningwu, Sharma Amita, Choi Yong, Miller Walter L, Portale Anthony A

Abstract excerpt

CONTEXT: Vitamin D 1alpha-hydroxylase deficiency, also known as vitamin D-dependent rickets type 1, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia and is caused by mutations of the 25-hydroxyvitamin D 1alpha-hydroxylase (1alpha-hydroxylase, CYP27B...

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Identifiers

PMID: 17488797
DOI: 10.1210/jc.2006-2664

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17488797-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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