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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
Sequence




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)

References

  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