A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism

European Journal of Pediatrics

Volumn 163, Issue 2, 2004, Pages 94-98

  Shiohara, Masaaki ^a   Mori, Tetsuo ^b   Mei, Bai ^c   Brown, Edward M ^c   Watanabe, Tomoyuki ^d   Yasuda, Toshiyuki ^d  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Shinshu Ueda Medical Center   (Japan)

^c HARVARD MEDICAL SCHOOL   (United States)

^d CHIBA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Hypercalciuria; Hypocalcaemia; Thiazide

Indexed keywords

CALCIUM ION; CALCIUM SENSING RECEPTOR; PARATHYROID HORMONE;

ARTICLE; CALCIUM CELL LEVEL; CASE REPORT; CONCENTRATION RESPONSE; CONTROLLED STUDY; DISEASE SEVERITY; EVOKED RESPONSE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERCALCIURIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; IN VITRO STUDY; MALE; MEMBRANE POTENTIAL; MUTANT; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; PROTEIN DOMAIN; WILD TYPE;

CALCIUM; HUMANS; HYPOPARATHYROIDISM; INFANT, NEWBORN; MALE; RECEPTORS, CALCIUM-SENSING; SEQUENCE ANALYSIS, DNA;

EID: 1242351795     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1331-7     Document Type: Article

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