CYP24A1 mutations in a cohort of hypercalcemic patients: Evidence for a recessive trait

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 10, 2015, Pages E1343-E1352

  Molin, A ^a,b   Baudoin, R ^c   Kaufmann, M ^d   Souberbielle, J C ^e   Ryckewaert, A ^f   Vantyghem, M C ^g   Eckart, P ^a   Bacchetta, J ^h   Deschenes, G ⁱ   Kesler Roussey, G ^j   Coudray, N ^a   Richard, N ^a   Wraich, M ^a   Bonafiglia, Q ^d   Tiulpakov, A ^d,k   Jones, G ^d   Kottler, M L ^b  

^a CAEN UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE CAEN   (France)

^c BORDEAUX UNIVERSITY HOSPITAL   (France)

^d QUEEN S UNIVERSITY   (Canada)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f RENNES UNIVERSITY HOSPITAL   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h HOSPICES CIVILS DE LYON   (France)

ⁱ ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^j NANTES UNIVERSITY HOSPITAL   (France)

^k ENDOCRINOLOGY RESEARCH CENTRE   (Russian Federation)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CALCIFEDIOL; COLECALCIFEROL 24 HYDROXYLASE; PARATHYROID HORMONE; SECALCIFEROL; CALCIUM; DIHYDROXY-VITAMIN D3; VITAMIN D;

ADULT; AGED; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CYP24A1 GENE; FEMALE; GENE FREQUENCY; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; HYPERCALCEMIA; IN VIVO STUDY; KIDNEY CALCIFICATION; LIQUID CHROMATOGRAPHY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MEASUREMENT ACCURACY; PATHOGENICITY; PRIORITY JOURNAL; RECESSIVE INHERITANCE; TANDEM MASS SPECTROMETRY; VITAMIN BLOOD LEVEL; ADOLESCENT; ANALOGS AND DERIVATIVES; BLOOD; CHILD; GENETICS; INFANT; MIDDLE AGED; MUTATION; NEWBORN; PRESCHOOL CHILD; VERY ELDERLY; YOUNG ADULT;

24,25-DIHYDROXYVITAMIN D 3; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CALCIUM; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, LIQUID; FEMALE; HUMANS; HYPERCALCEMIA; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; PARATHYROID HORMONE; TANDEM MASS SPECTROMETRY; VITAMIN D; VITAMIN D3 24-HYDROXYLASE; YOUNG ADULT;

EID: 84943762396     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-4387     Document Type: Article

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