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PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.
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2010 (English)In: Ophthalmic Genetics, ISSN 1381-6810, Vol. 31, no 3, 139-140 p.Article in journal (Refereed) Published
Abstract [en]

The first mutation in PITPNM3, a human homologue of the Drosophila retinal degeneration (rdgB not not) gene was reported in two large Swedish families with autosomal dominant cone dystrophy. To establish the global impact that PITPNM3 has on retinal degenerations we screened 163 patients from Denmark, Germany, the UK, and USA. Four sequence variants, two missence mutations and two intronic changes were identified in the screen. Thus, mutations in PITPNM3 do not appear to be a major cause of cone or cone-rod dystrophy.

Place, publisher, year, edition, pages
Informa Healthcare , 2010. Vol. 31, no 3, 139-140 p.
Keyword [en]
PITPNM3, mutation, cone dystrophy
National Category
Ophthalmology Medical Genetics
Research subject
Ophtalmology; Clinical Genetics
URN: urn:nbn:se:umu:diva-35499DOI: 10.3109/13816810.2010.486776ISI: 000282248100007PubMedID: 20590364Local ID: 744OAI: diva2:344741
Available from: 2010-08-20 Created: 2010-08-20 Last updated: 2011-04-13Bibliographically approved

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Köhn, LindaSandgren, OlaGolovleva, Irina
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