Tomar, Neeraj

Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members. [electronic resource] - European journal of endocrinology Feb 2010 - 407-21 p. digital

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

1479-683X

10.1530/EJE-09-0303 doi


Case-Control Studies
DNA Mutational Analysis
Family Health
Female
Genetic Predisposition to Disease--epidemiology
HeLa Cells
Heterozygote
Humans
Hypoparathyroidism--epidemiology
Male
Nuclear Proteins--chemistry
Pedigree
Point Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Prevalence
Protein Structure, Tertiary
Transcription Factors--chemistry