Abstract | PURPOSE: To search for a phenotype associated with mutations in the phosducin gene PDC. METHODS: RESULTS: We found one polymorphism in the 5' untranslated region (minor allele frequency of 0.149) and three rare single-base sequence variants (one missense change, one isocoding change, and one in the 3' untranslated region). The rare variants were found in one heterozygous patient each and none was interpreted as pathogenic. CONCLUSIONS:
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Authors | Koji M Nishiguchi, Eliot L Berson, Thaddeus P Dryja |
Journal | Molecular vision
(Mol Vis)
Vol. 10
Pg. 62-4
(Jan 26 2004)
ISSN: 1090-0535 [Electronic] United States |
PMID | 14758335
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Eye Proteins
- GTP-Binding Protein Regulators
- Phosphoproteins
- phosducin
- Protein Kinases
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Topics |
- DNA Mutational Analysis
- Eye Proteins
(genetics)
- GTP-Binding Protein Regulators
- Genetic Testing
- Humans
- Mutation
- Phosphoproteins
(genetics)
- Polymorphism, Genetic
(genetics)
- Protein Kinases
(genetics)
- Retinitis Pigmentosa
(genetics)
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