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.

Kanakamani, Jeyaraman

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] - Calcified tissue international Jan 2010 - 33-41 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1432-0827

10.1007/s00223-009-9310-2 doi


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