Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

Human Mutation

Volumn 16, Issue 4, 2000, Pages 281-296

  Hendy, Geoffrey N ^a   D'Souza Li, Lilia ^a   Yang, Bing ^a   Canaff, Lucie ^a   Cole, David E C ^b  

^a ROYAL VICTORIA HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

ADH; Autosomal dominant; Calcium sensing receptor; CASR; Familial (benign); FHH; Hyperparathyroidism; Hypocalcemia; Hypocalciuric hypercalcemia; Mutation database; Neonatal severe; NSHPT; Parathyroid hormone; PTH

Indexed keywords

CALCIUM ION; CALCIUM SENSING RECEPTOR; G PROTEIN COUPLED RECEPTOR; RECEPTOR ANTIBODY;

AUTOSOMAL DOMINANT INHERITANCE; CALCIUM BLOOD LEVEL; CALCIUM HOMEOSTASIS; CHROMOSOME 3P; DRUG TARGETING; GENE MUTATION; HUMAN; HYPERCALCEMIA; HYPOCALCEMIA; NUCLEOTIDE SEQUENCE; PARATHYROID CELL; PARATHYROID HORMONE RELEASE; PARATHYROID TUMOR; PATHOGENESIS; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; PROTEIN POLYMORPHISM; REVIEW;

CALCIUM; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCEMIA; INFANT, NEWBORN; MUTATION; RECEPTORS, CELL SURFACE;

EID: 0033800097     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A     Document Type: Review

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