A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 1, 1999, Pages 363-366

  Okazaki, Ryo ^a   Chikatsu, Noriko ^c   Nakatsu, Masami ^b   Takeuchi, Yasuhiro ^c   Ajima, Miho ^b   Miki, Junko ^b   Fujita, Toshiro ^c   Arai, Masanobu ^b   Totsuka, Yasuo ^b   Tanaka, Koshi ^a   Fukumoto, Seiji ^c  

^a TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Kanto Teishin Hospital   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM BINDING PROTEIN; CALCIUM ION; PARATHYROID HORMONE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CALCIUM BINDING; CALCIUM BLOOD LEVEL; CALCIUM CELL LEVEL; CASE REPORT; GENE MUTATION; HUMAN; HYPOCALCEMIA; MALE; MISSENSE MUTATION; NEPHROLITHIASIS; PARATHYROID HORMONE BLOOD LEVEL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; DNA; GENES, DOMINANT; HUMANS; HYPOCALCEMIA; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE;

EID: 0032906973     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.1.363     Document Type: Article

References (18)

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