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]
Producer: 20100217Description: 407-21 p. digitalISSN:- 1479-683X
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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