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Mutation Database
Mutations of the P-Cadherin Gene (CDH3)

Recent update from: 19.08.2002

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference

The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.

RP11 981delG G - _ 981 8 -NlaIII Homozygous
Reduced expression in skin biopsies



  1. Sprecher,E., Bergman,R., Richard,G., Lurie,R., Shalev,S., Petronius,D., Shalata,A., Anbinder,Y., Leibu,R., Perlman,I., Cohen,N., and Szargel,R. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. 2001; Nat.Genet. 29: 134-136.
    Link to PubMed
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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz