Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 2, 2005, Pages 864-870

  Wystrychowski, Antoni ^a   Pidasheva, Svetlana ^b   Canaff, Lucie ^b   Chudek, Jerzy ^a   Kokot, Franciszek ^a   Wiȩcek, Andrzej ^a   Hendy, Geoffrey N ^b  

^a MEDICAL UNIVERSITY OF SILESIA   (Poland)

^b ROYAL VICTORIA HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; MITOGEN ACTIVATED PROTEIN KINASE;

ADULT; ARTICLE; CALCIUM HOMEOSTASIS; CASE REPORT; CELL STRAIN HEK293; CLINICAL FEATURE; CODON; CONTROLLED STUDY; EMBRYO; FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSFECTION; HETEROZYGOSITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HYPERCALCEMIA; HYPERCALCIURIA; HYPERPARATHYROIDISM; NEWBORN; NEWBORN HYPERPARATHYROIDISM; PARATHYROIDECTOMY; POLAND; PRIORITY JOURNAL; PROTEIN EXPRESSION; TREATMENT FAILURE; TREATMENT OUTCOME; WILD TYPE;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CALCIUM; CODON; DNA, COMPLEMENTARY; FEMALE; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; MAGNESIUM; MALE; MIDDLE AGED; PEDIGREE; PHOSPHATES; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CALCIUM-SENSING;

EID: 14044277029     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-1791     Document Type: Article

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