A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II. [electronic resource]
Producer: 20120417Description: 585-91 p. digitalISSN:- 1673-8527
- Adolescent
- Adult
- Aged
- Amino Acid Sequence
- Audiometry
- Base Sequence
- Child
- Child, Preschool
- Connexin 26
- Connexins -- genetics
- DNA Mutational Analysis
- DNA, Mitochondrial -- genetics
- Female
- Humans
- Infant
- Male
- Microphthalmia-Associated Transcription Factor -- genetics
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- RNA, Ribosomal -- genetics
- Sequence Alignment
- Waardenburg Syndrome -- genetics
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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