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Scientific Newsletter


Mutation Database
Mutations of the Neuroretina-linked Leucine Zipper Gene

Recent update from: 18.07.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
ADRP Ser 50 Thr TCA-ACA 1942 2 -HphI Increase in the transactivation

(1)

References

1. Bessant, D.A., Payne, A.M., Mitton, K.P., Wang, Q.L., Swain, P.K., Plant, C., Bird, A.C., Zack, D.J., Swaroop, A., and Bhattacharya, S.S. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 1999; Nat.Genet. 21: 355 - 356.
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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