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Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q
F. Liska, B. Chylikova, J. Martinek, V. Kren
Language English Country United States
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- MeSH
- Point Mutation genetics MeSH
- Phenotype MeSH
- Financing, Organized MeSH
- Glutamine genetics MeSH
- Cataract genetics pathology MeSH
- Connexins genetics chemistry MeSH
- Rats MeSH
- Lysine genetics MeSH
- Chromosome Mapping MeSH
- Microphthalmos genetics pathology MeSH
- Molecular Sequence Data MeSH
- Lens, Crystalline pathology MeSH
- Eye Proteins genetics chemistry MeSH
- Amino Acid Sequence MeSH
- Amino Acid Substitution MeSH
- Inheritance Patterns genetics MeSH
- Animals MeSH
- Check Tag
- Rats MeSH
- Animals MeSH
PURPOSE: We isolated an autosomal semi-dominant cataract from our inbred SHR/OlaIpcv rat colony. Heterozygotes express pulverulent cataract with smaller eyes; homozygotes express marked microphthalmia with hypoplastic lens. We call this mutation Dca (for dominant cataract). In this study, we focus on the identification of the responsible gene.
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- $a Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q / $c F. Liska, B. Chylikova, J. Martinek, V. Kren
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- $a Institute of Biology and Medical Genetics of the 1st Faculty of Medicine and General Teaching Hospital, Charles University in Prague, Prague, Czech Republic. frantisek.liska@lf1.cuni.cz
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- $a PURPOSE: We isolated an autosomal semi-dominant cataract from our inbred SHR/OlaIpcv rat colony. Heterozygotes express pulverulent cataract with smaller eyes; homozygotes express marked microphthalmia with hypoplastic lens. We call this mutation Dca (for dominant cataract). In this study, we focus on the identification of the responsible gene.
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- $a substituce aminokyselin $7 D019943
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- $a katarakta $x genetika $x patologie $7 D002386
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