Familial hypoparathyroidism: Identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 7, 1998, Pages 2497-2502

  Watanabe, Tomoyuki ^a   Bai, Mei ^b   Lane, Charles R ^b   Matsumoto, Susumu ^c   Minamitani, Kanshi ^a   Minagawa, Masanori ^a   Niimi, Hiroo ^a   Brown, Edward M ^b   Yasuda, Toshiyuki ^a  

^a CHIBA UNIVERSITY   (Japan)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c Saitama Yorii Children's Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALFACALCIDOL; CALCIUM ION; CALCIUM SENSING RECEPTOR; CELL RECEPTOR; PARATHYROID HORMONE; THIAZIDE DIURETIC AGENT; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM BLOOD LEVEL; CLINICAL ARTICLE; CONCENTRATION RESPONSE; CONTROLLED STUDY; EXTRACELLULAR CALCIUM; FEMALE; GENE MUTATION; GENE SEGREGATION; HYPOPARATHYROIDISM; JAPAN; MALE; MISSENSE MUTATION; NONHUMAN; PARATHYROID HORMONE BLOOD LEVEL; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE; RECEPTOR SENSITIVITY; SEIZURE; SEQUENCE ANALYSIS; TETANY;

BLOTTING, WESTERN; CALCIUM; CELL MEMBRANE; FEMALE; GENES, DOMINANT; HUMANS; HYPOCALCEMIA; HYPOPARATHYROIDISM; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA;

EID: 0031727918     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.7.2497     Document Type: Article

References (24)

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