Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II. [electronic resource]
Producer: 20100420Description: 33-41 p. digitalISSN:- 1432-0827
- Adolescent
- Alkaline Phosphatase -- blood
- Alopecia -- genetics
- Amino Acid Sequence -- genetics
- Base Sequence
- Calcitriol -- blood
- Calcium -- pharmacology
- Codon, Nonsense -- genetics
- DNA Mutational Analysis
- Familial Hypophosphatemic Rickets -- drug therapy
- Female
- Frameshift Mutation -- genetics
- Gene Deletion
- Genetic Markers
- Genetic Predisposition to Disease -- genetics
- Humans
- Hyperparathyroidism -- genetics
- Hypocalcemia -- genetics
- Hypophosphatemia -- genetics
- Mutation -- genetics
- Phosphates -- pharmacology
- Protein Structure, Tertiary -- genetics
- Receptors, Calcitriol -- chemistry
- Recovery of Function -- physiology
- Treatment Outcome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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