Molecular and clinical analysis of a neonatal severe hyperparathyroidism case caused by a stop mutation in the calcium-sensing receptor extracellular domain representing in effect a human 'knockout'

European Journal of Endocrinology

Volumn 169, Issue 1, 2013, Pages

  Ward, D T ^a   Mughal, M Z ^b   Ranieri, M ^c   Dvorak Ewell, M M ^d   Valenti, G ^c   Riccardi, D ^e  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF BARI   (Italy)

^d ULTRAGENYX PHARMACEUTICAL INC   (United States)

^e CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALFACALCIDOL; ALKALINE PHOSPHATASE; ANTIBIOTIC AGENT; CALCICHEW D3 FORTE; CALCIUM; CALCIUM CARBONATE; CALCIUM SENSING RECEPTOR; FUROSEMIDE; PARATHYROID HORMONE; UNCLASSIFIED DRUG;

ALKALINE PHOSPHATASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL MILK; BONE DEMINERALIZATION; CALCIUM BLOOD LEVEL; CAR GENE; CASE REPORT; CELL STRAIN HEK293; CHILD; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FEMALE; GENE INSERTION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCEMIA; JAUNDICE; KNOCKOUT GENE; LOSS OF FUNCTION MUTATION; NEONATAL SEVERE HYPERPARATHYROIDISM; NEWBORN DISEASE; PARATHYROID GLAND; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROIDECTOMY; PHOTOTHERAPY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; REHYDRATION; SCHOOL CHILD; SEPSIS; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; STOP CODON; STOP MUTATION; TRANSIENT EXPRESSION; WILD TYPE;

AMINO ACID SUBSTITUTION; ARGININE; CALCIUM; CHILD; ENDOPLASMIC RETICULUM; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HEK293 CELLS; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; IMMUNOBLOTTING; INFANT; INFANT, NEWBORN; MUTAGENESIS, INSERTIONAL; PARATHYROID HORMONE; PARATHYROIDECTOMY; RECEPTORS, CALCIUM-SENSING; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX; TRANSFECTION; TREATMENT OUTCOME;

EID: 84879955416     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-13-0094     Document Type: Article

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