Scientific Newsletter
Mutations of the Prominin (mouse)-like 1 gene (PROML1)
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Prominin (mouse)-like 1 gene (PROML1) |
Recent update from: tt.06.jj
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
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| Retinal Degenration, autosomal recessive | 1878delG | AGGAAG-AG_AAG | 1878 | 12 |
Consanguineous Indian Homozygous Mutated protein does not reach cell surface |
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(1)
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References
1. Maw, M.A., Corbeil, D., Koch, J., Hellwig, A., Wilson-Wheeler, J.C., Bridges, R.J., Kumaramanickavel, G., John, S., Nancarrow, D., Röper, K., Weigmann, A., Huttner, W.B., and Denton, M.J. A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. 2000; Hum.Mol.Genet. 9: 27 - 34.
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Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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