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Achromatopsia: theCNGB3p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14
✍ Scribed by Wojciech Wiszniewski; Richard Alan Lewis; James R. Lupski
- Book ID
- 106134502
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 346 KB
- Volume
- 121
- Category
- Article
- ISSN
- 0340-6717
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