CYP24A1 mutation leading to nephrocalcinosis

Kidney Int. 2014 Jun;85(6):1475. doi: 10.1038/ki.2013.416.

Authors

Frances E Dowen¹, Judith A Sayers², Ann M Hynes², John A Sayer³

Affiliations

¹ Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
² Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
³ 1] Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK [2] Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

PMID: 24875559
DOI: 10.1038/ki.2013.416

No abstract available

Publication types

Case Reports

MeSH terms

DNA Mutational Analysis
Genetic Predisposition to Disease
Heredity
Humans
Kidney / diagnostic imaging
Male
Middle Aged
Mutation*
Nephrocalcinosis / diagnosis
Nephrocalcinosis / enzymology*
Nephrocalcinosis / genetics*
Pedigree
Phenotype
Tomography, X-Ray Computed
Ultrasonography
Vitamin D3 24-Hydroxylase / genetics*

Substances

CYP24A1 protein, human
Vitamin D3 24-Hydroxylase