Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I. [electronic resource]
Producer: 20171226Description: 362-366 p. digitalISSN:- 1879-0038
- Cell Line
- Cell Nucleus -- genetics
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Humans
- Male
- Microphthalmia-Associated Transcription Factor -- genetics
- Mutation, Missense
- PAX3 Transcription Factor -- genetics
- Pedigree
- Promoter Regions, Genetic
- Sequence Analysis, DNA
- Waardenburg Syndrome -- genetics
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Publication Type: Journal Article
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