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