Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene

Clinical Endocrinology

Volumn 67, Issue 3, 2007, Pages 385-392

  Tõke, Judit ^a   Czirják, Gábor ^a   Patócs, Attila ^a   Enyedi, Balázs ^a   Gergics, Péter ^a   Csákváry, Violetta ^b   Enyedi, Péter ^a   Tóth, Miklós ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b Markusovszky Teaching Hospital   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CALCIUM; CALCIUM SENSING RECEPTOR; LYSINE;

ALLELE; ARTICLE; CASE REPORT; CELL STRAIN HEK293; CODON; FUNCTIONAL ASSESSMENT; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCIURIA; MALE; PLASMID; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS;

BONE DENSITY; CALCIUM; CHILD; FAMILY HEALTH; FEMALE; FEMUR; HEK293 CELLS; HETEROZYGOTE; HUMANS; HYPERPARATHYROIDISM; INFANT, NEWBORN; MALE; PEDIGREE; POINT MUTATION; RECEPTORS, CALCIUM-SENSING; SEVERITY OF ILLNESS INDEX;

EID: 34548043723     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.02896.x     Document Type: Article

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