Novel mutations in the 1α-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages

Journal of Bone and Mineral Research

Volumn 14, Issue 5, 1999, Pages 730-739

  Smith, S J ^a   Rucka, A K ^a,b   Berry, J L ^a   Davies, M ^a   Mylchreest, S ^a   Paterson, C R ^c   Heath, D A ^d   Tassabehji, M ^b   Read, A P ^b   Mee, A P ^a   Mawer, E Barbara ^a  

^a MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CYTOCHROME P450; OXYGENASE; 24,25 DIHYDROXYCOLECALCIFEROL; CALCIDIOL 1 MONOOXYGENASE; CHOLESTANETRIOL 26 MONOOXYGENASE; CYP27A1 PROTEIN, HUMAN; DNA; FERREDOXIN; HEME; STEROID MONOOXYGENASE;

ARTICLE; ELECTRON TRANSPORT; ENZYME ACTIVITY; GENE MUTATION; HUMAN; HUMAN CELL; HYPOCALCEMIA; KIDNEY METABOLISM; MACROPHAGE ACTIVATION; MISSENSE MUTATION; MULTIGENE FAMILY; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; VITAMIN D DEFICIENCY; VITAMIN D RESISTANT RICKETS; CELL CULTURE; CHEMISTRY; CHILD; CHROMOSOME 12; ENZYMOLOGY; FEMALE; GENETIC POLYMORPHISM; GENETICS; INFANT; INTRON; MACROPHAGE; MALE; METABOLISM; MOLECULAR CLONING; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; RICKETS;

24,25-DIHYDROXYVITAMIN D 3; 25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; BASE SEQUENCE; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 12; CLONING, MOLECULAR; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; DNA; FEMALE; FERREDOXINS; HEME; HUMANS; INFANT; INTRONS; MACROPHAGES; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RICKETS; STEROID HYDROXYLASES;

EID: 0032588038     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.1999.14.5.730     Document Type: Article

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