A case report of familial benign hypocalciuric hypercalcemia: A mutation in the calcium-sensing receptor gene

Yonsei Medical Journal

Volumn 47, Issue 2, 2006, Pages 255-258

  Woo, Seong Ill ^a   Song, Hyunju ^a   Song, Kyung Eun ^a   Kim, Dae Jung ^a   Lee, Kwan Woo ^a   Kim, Se Joong ^a   Chung, Yoon Sok ^a  

^a Ajou University School of Medicine   (South Korea)

Author keywords

Autosomal dominant; Calcium sensing receptor mutation; Familial; Hypocalciuric hypercalcemia

Indexed keywords

ADENINE; CALCIUM SENSING RECEPTOR; GENOMIC DNA; GLUTAMIC ACID; GUANINE; LYSINE;

ABDOMINAL RADIOGRAPHY; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CALCIUM BLOOD LEVEL; CALCIUM URINE LEVEL; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERCALCEMIA; HYPOCALCIURIA; KIDNEY CARCINOMA; KOREA; MALE; NEPHRECTOMY; PATHOLOGY; POLYMERASE CHAIN REACTION; SCHOOL CHILD;

ADULT; DNA; DNA RESTRICTION ENZYMES; EXONS; FAMILY HEALTH; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; HYPERCALCEMIA; KOREA; MALE; METABOLISM, INBORN ERRORS; MUTATION; PARATHYROID HORMONE; PEDIGREE; RECEPTORS, CALCIUM-SENSING; SEQUENCE ANALYSIS, DNA;

EID: 33646176382     PISSN: 05135796     EISSN: 05135796     Source Type: Journal    
DOI: 10.3349/ymj.2006.47.2.255     Document Type: Article

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