A new missense mutation in the calcium-sensing receptor in familial benign hypercalcaemia associated with partial lipoatrophy and insulin resistant diabetes

Clinical Endocrinology

Volumn 53, Issue 3, 2000, Pages 393-398

  Vigouroux, C ^a   Bourut, C ^a   Guerci, B ^b   Ziegler, O ^b   Magre J ^a   Capeau, J ^a   Meyer, L ^b  

^a INSERM   (France)

^b UNIVERSITY HOSPITAL OF NANCY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; CALCIUM SENSING RECEPTOR; CYSTEINE; INSULIN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; DIABETES MELLITUS; FEMALE; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; INSULIN RESISTANCE; LIGAND BINDING; LIPOATROPHY; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION;

ADOLESCENT; CALCIUM; DIABETES COMPLICATIONS; DIABETES MELLITUS; FEMALE; HETEROZYGOTE; HUMANS; HYPERCALCEMIA; INSULIN RESISTANCE; LIPODYSTROPHY; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE;

EID: 0033824635     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2000.01042.x     Document Type: Article

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