Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. [electronic resource]
Producer: 20000124Description: 520-6 p. digitalISSN:- 1059-7794
- Amino Acid Sequence
- Audiometry
- Base Sequence
- Carrier Proteins -- genetics
- Cochlea -- abnormalities
- DNA -- genetics
- Female
- Genes, Recessive
- Goiter -- genetics
- Hearing Loss, Sensorineural -- congenital
- Humans
- Male
- Membrane Transport Proteins
- Mutation
- Pedigree
- Phenotype
- RNA Splicing -- genetics
- Sulfate Transporters
- Syndrome
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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