Novel gene mutations in patients with 1α-hydroxylase deficiency that confer partial enzyme activity in vitro

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 6, 2002, Pages 2424-2430

  Wang, Xuemei ^a   Zhang, Martin Y H ^a   Miller, Walter L ^a   Portale, Anthony A ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; COLECALCIFEROL; COMPLEMENTARY DNA; CYTOCHROME P450 1A; OXYGENASE; VITAMIN D;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HORMONAL REGULATION; HUMAN; HYDROXYLATION; HYPOCALCEMIA; IN VITRO STUDY; INFANT; LEYDIG CELL; MISSENSE MUTATION; MOLECULAR CLONING; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RICKETS; RNA SPLICING;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; ANIMALS; BASE SEQUENCE; CELL LINE; DNA, COMPLEMENTARY; FEMALE; GENE EXPRESSION; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; VITAMIN D DEFICIENCY;

INSERTION SEQUENCES;

EID: 0036077507     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.87.6.2424     Document Type: Article

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