Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. [electronic resource]
Producer: 20050208Description: 333-40 p. digitalISSN:- 0009-9163
- Adolescent
- Adult
- Biological Transport
- Child
- Child, Preschool
- Female
- France -- epidemiology
- Genetic Heterogeneity
- Goiter -- diagnosis
- Hearing Loss -- diagnosis
- Humans
- Male
- Mass Screening
- Membrane Transport Proteins -- genetics
- Middle Aged
- Mutation -- genetics
- Phenotype
- Sulfate Transporters
- Syndrome
- Vestibular Aqueduct -- pathology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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