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'. [electronic resource]
Producer: 20130715Description: K1-7 p. digitalISSN:- 1479-683X
- Amino Acid Substitution
- Arginine
- Calcium -- blood
- Child
- Endoplasmic Reticulum -- genetics
- Female
- Fluorescent Antibody Technique
- HEK293 Cells
- Humans
- Hypercalcemia -- blood
- Hyperparathyroidism -- blood
- Immunoblotting
- Infant
- Infant, Newborn
- Mutagenesis, Insertional
- Parathyroid Hormone -- blood
- Parathyroidectomy -- methods
- Receptors, Calcium-Sensing -- genetics
- Sequence Analysis, DNA -- methods
- Severity of Illness Index
- Transfection
- Treatment Outcome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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