Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome. [electronic resource]
Producer: 20121017Description: 832-6 p. digitalISSN:- 1872-8464
- Adult
- Child
- Connexin 26
- Connexins -- genetics
- Consanguinity
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Genetic Testing -- methods
- Genotype
- Goiter, Nodular -- diagnosis
- Hearing Loss, Sensorineural -- diagnosis
- Heterozygote
- Humans
- Male
- Membrane Transport Proteins -- genetics
- Mutation
- Pedigree
- Polymorphism, Genetic
- Sulfate Transporters
- Tunisia
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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