25 hydroxyvitamin d3 1-alpha hydroxylase, partial [Homo sapiens]

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Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries. [J Pediatr Endocrinol Metab. 2023]
Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.
Aftab S, Khan SA, Malik MI, Imran A, Anjum MN, Saeed A, Qureshi AA, Cheema HA. J Pediatr Endocrinol Metab. 2023 Feb 23; 36(2):152-157. Epub 2022 Dec 19.
The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus. [Turk J Med Sci. 2022]
The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus.
Luo M, Lıu J, Yuan Y, Chen Y, Yuan G. Turk J Med Sci. 2022 Aug; 52(4):984-989. Epub 2022 Aug 10.
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease. [J Clin Endocrinol Metab. 2023]
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN, Harambat J, Rothenbuhler A, Léger J, Kamenicky P, Soskin S, Boyer O, Boros E, D'Anella P, Mignot B, et al. J Clin Endocrinol Metab. 2023 Mar 10; 108(4):812-826.

RefSeq genomic sequence
See the genomic reference sequence for the CYP27B1 gene (NG_007076.1).
RefSeq protein
See the reference protein sequence for 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (NP_000776.1).

25-hydroxyvitamin D3 1alpha-hydroxylase [Homo sapiens]
25-hydroxyvitamin D3 1alpha-hydroxylase [Homo sapiens]
gi|2516244|dbj|BAA22656.1|

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Protein