Ruling in a suspect: The role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 12, 2013, Pages 4666-4669

  Hendy, Geoffrey N ^a,b   Cole, David E C ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; PARATHYROID HORMONE;

AP2S1 GENE; CALCIUM BLOOD LEVEL; CALCIUM EXCRETION; CALCIUM HOMEOSTASIS; CASR GENE; ENDOCYTOSIS; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HYPERCALCEMIA; IDIOPATHIC INFANTILE HYPERCALCEMIA; MISSENSE MUTATION; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTOR PROTEIN COMPLEX 2; ADAPTOR PROTEIN COMPLEX SIGMA SUBUNITS; CALCIUM, DIETARY; FEMALE; HUMANS; HYPERCALCEMIA; MUTATION;

EID: 84889816274     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3616     Document Type: Review

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