CYP24A1 mutation leading to nephrocalcinosis

Kidney International

Volumn 85, Issue 6, 2014, Pages 1475-

  Dowen, Frances E ^a   Sayers, Judith A ^b   Hynes, Ann M ^b   Sayer, John A ^a,b  

^a NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 2A1; KETOCONAZOLE; COLECALCIFEROL 24 HYDROXYLASE; CYP24A1 PROTEIN, HUMAN;

ADULT; CASE REPORT; DIAGNOSTIC IMAGING; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERCALCEMIA; KIDNEY CALCIFICATION; KIDNEY COLIC; MALE; NEPHROLITHIASIS; NOTE; PHENOTYPE; PRIORITY JOURNAL; COMPUTER ASSISTED TOMOGRAPHY; ECHOGRAPHY; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETICS; HEREDITY; KIDNEY; MIDDLE AGED; MUTATION; NEPHROCALCINOSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; RADIOGRAPHY;

DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HUMANS; KIDNEY; MALE; MIDDLE AGED; MUTATION; NEPHROCALCINOSIS; PEDIGREE; PHENOTYPE; TOMOGRAPHY, X-RAY COMPUTED; VITAMIN D3 24-HYDROXYLASE;

EID: 84901855513     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2013.416     Document Type: Note

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