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- Title
Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
- Authors
Schatz, Patrik; Ponjavic, Vesna; Andréasson, Sten; McGee, Terri L; Dryja, Thaddeus P; Abrahamson, Magnus
- Abstract
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) have recently been discovered to cause a form of autosomal dominant retinitis pigmentosa (adRP). Such mutations are estimated to account for approximately 2-5% of the adRP cases among Americans of European origin and Europeans. Aiming towards an understanding of the molecular background of retinitis pigmentosa, this paper describes the phenotype of a Swedish family with a mutation in IMPDH1.
- Publication
Ophthalmic genetics, 2005, Vol 26, Issue 3, p119
- ISSN
1381-6810
- Publication type
Journal Article
- DOI
10.1080/13816810500229090