TY  - GEN
AU  - Kanakamani,Jeyaraman
AU  - Tomar,Neeraj
AU  - Kaushal,Esha
AU  - Tandon,Nikhil
AU  - Goswami,Ravinder
TI  - 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
SN  - 1432-0827
PY  - 2010///0420
KW  - Adolescent
KW  - Alkaline Phosphatase
KW  - blood
KW  - Alopecia
KW  - genetics
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Calcitriol
KW  - Calcium
KW  - pharmacology
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - Familial Hypophosphatemic Rickets
KW  - drug therapy
KW  - Female
KW  - Frameshift Mutation
KW  - Gene Deletion
KW  - Genetic Markers
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Hyperparathyroidism
KW  - Hypocalcemia
KW  - Hypophosphatemia
KW  - Mutation
KW  - Phosphates
KW  - Protein Structure, Tertiary
KW  - Receptors, Calcitriol
KW  - chemistry
KW  - Recovery of Function
KW  - physiology
KW  - Treatment Outcome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00223-009-9310-2
ER  -