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Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients.

Bone - 1 Sept 2012

Cui Ningyi, Xia Weibo, Su Hua, Pang Li, Jiang Yan, Sun Yue, Nie Min, Xing Xiaoping, Li Mei, Wang Ou, Yuan Tao, Chi Yue, Hu Yingying, Liu Huaicheng, Meng Xunwu, Zhou Xueying

Abstract excerpt

Pseudovitamin D-deficiency rickets (PDDR) is an autosomal recessive disorder resulting from a defect in renal 25-hydroxyvitamin D 1α-hydroxylase, the key enzyme in the pathway of vitamin D metabolism. We identified ten different mutations in the 1α-hydroxylase gene (CYP27B1) in eight Chinese families with PDDR by DNA-sequence analysis. Six of them are novel missense mutations: G57V, G73W, L333F, R432C, R459C, and...

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Identifiers

PMID: 22588163
DOI: 10.1016/j.bone.2012.05.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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