An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor

Clinical Endocrinology

Volumn 50, Issue 4, 1999, Pages 537-543

  Chikatsu, Noriko ^a   Fukumoto, Seiji ^a   Suzawa, Miyuki ^a   Tanaka, Yuji ^a   Takeuchi, Yasuhiro ^c   Takeda, Shu ^a   Tamura, Yasuhiro ^a   Matsumoto, Toshio ^b   Fujita, Toshiro ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKUSHIMA   (Japan)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; CALCIUM; DNA; GLUTAMINE; LEUCINE; MUTANT PROTEIN; PARATHYROID HORMONE; PROLINE; RECEPTOR;

ARTICLE; CASE REPORT; CODON; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCIURIA; KIDNEY CELL; MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; ANALYSIS OF VARIANCE; CALCIUM; CODON; FEMALE; HOMOZYGOTE; HUMANS; HYPERCALCEMIA; MUTAGENESIS; MUTATION; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA;

EID: 0032911696     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.1999.00729.x     Document Type: Article

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