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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
Retinal Degenration, autosomal recessive 1878delG AGGAAG-AG_AAG 1878 12

Consanguineous Indian
Homozygous
Mutated protein does not reach cell surface


(1)

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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This site is maintained and edited by
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