Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene

Journal of Bone and Mineral Research

Volumn 17, Issue 12, 2002, Pages 2174-2182

  Yamauchi, Mika ^a   Sugimoto, Toshitsugu ^a   Yamaguchi, Toru ^a   Yano, Shozo ^a   Wang, Junning ^b   Bai, Mei ^b   Brown, Edward M ^b   Chihara, Kazuo ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Calcium sensing receptor; Familial hypocalciuric hypercalcemia; Parathyroid gland; Parathyroid hormone; Renal tubular acidosis

Indexed keywords

CALCIUM ION; CALCIUM SENSING RECEPTOR; PARATHYROID HORMONE; VITAMIN D RECEPTOR; CALCIUM; CELL SURFACE RECEPTOR; PRIMER DNA;

AGED; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC IMAGING; ECHOGRAPHY; EMBRYO; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HISTOLOGY; HUMAN; HUMAN CELL; HYPERCALCEMIA; HYPERMAGNESEMIA; HYPERPARATHYROIDISM; HYPOCALCIURIA; IMMUNOBLOTTING; NEPHROTIC SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PARATHYROID GLAND; PARATHYROID HORMONE BLOOD LEVEL; POLYMERASE CHAIN REACTION; RECEPTOR GENE; SCINTIGRAPHY; CELL LINE; GENETICS; MALE; MUTATION; PEDIGREE; URINE; WESTERN BLOTTING;

BASE SEQUENCE; BLOTTING, WESTERN; CALCIUM; CELL LINE; DNA PRIMERS; FEMALE; HUMANS; HYPERCALCEMIA; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE;

EID: 0036894681     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2002.17.12.2174     Document Type: Article

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