Vitamin D 1α-hydroxylase gene mutations in patients with 1α-hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 8, 2007, Pages 3177-3182

  Chan, Jong Kim ^a,e   Kaplan, Larry E ^a   Perwad, Farzana ^a   Huang, Ningwu ^a   Sharma, Amita ^b   Choi, Yong ^c   Miller, Walter L ^a   Portale, Anthony A ^a,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c Seoul National University Children's Hospital   (South Korea)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e Chonnam National University Medical School   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; AMINO ACID; CALCITRIOL; CALCIUM; CYTOSINE; ERGOCALCIFEROL; GUANINE; NUCLEOTIDE; OXYGENASE; THYMINE; VITAMIN D; BIOLOGICAL MARKER; DNA; PRIMER DNA; STEROID MONOOXYGENASE; UNCLASSIFIED DRUG; VITAMIN D 1 ALPHA HYDROXYLASE; VITAMIN D 1-ALPHA HYDROXYLASE;

1ALPHA HYDROXYLASE DEFICIENCY; ACIDURIA; AMINO ACID SUBSTITUTION; AMINOACIDURIA; ARGENTINA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DENMARK; DNA DETERMINATION; DRUG MEGADOSE; ENZYME DEFICIENCY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPOCALCEMIA; INTRON; KOREA; MALE; MOROCCO; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; RADIOGRAPHY; RICKETS; SEIZURE; STOP CODON; UNITED STATES; VITAMIN BLOOD LEVEL; BLOOD; CASE REPORT; FEMUR FRACTURE; GENE DELETION; GENETICS; INFANT; MUTATION; PHYSIOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSPOSON;

AMINO ACID SUBSTITUTION; BIOLOGICAL MARKERS; CALCITRIOL; DNA; DNA PRIMERS; DNA TRANSPOSABLE ELEMENTS; EXONS; FEMALE; FEMORAL FRACTURES; GENE DELETION; HUMANS; HYPOCALCEMIA; INFANT; INTRONS; MALE; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RICKETS; SEIZURES; STEROID HYDROXYLASES;

EID: 34547812154     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-2664     Document Type: Article

References (24)

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