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Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Ophthalmology.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.
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2008 (English)In: Recent Advances in Retinal Degeneration / [ed] Robert E. Anderson, Matthew M. LaVail, Joe G. Hollyfield, Springer , 2008, Vol. 613, 229-234 p.Conference paper, Published paper (Refereed)
Abstract [en]

 

 

Place, publisher, year, edition, pages
Springer , 2008. Vol. 613, 229-234 p.
Series
Advances in experimental medicine and biology
Keyword [en]
PYK2-binding, cone dystrophy
National Category
Ophthalmology Genetics
Research subject
Genetics
Identifiers
URN: urn:nbn:se:umu:diva-35500DOI: 10.1007/978-0-387-74904-4_26PubMedID: 18188949Local ID: 744ISBN: 978-0-387-74902-0 (print)OAI: oai:DiVA.org:umu-35500DiVA: diva2:344747
Conference
the XII International Symposium on Retinal Degeneration (also known as RD2006) held October 23-28, 2006 in San Carlos de Bariloche, Argentina
Available from: 2010-08-20 Created: 2010-08-20 Last updated: 2011-04-13Bibliographically approved

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Köhn, LindaKadzhaev, KonstantinBurstedt, Marie S IHaraldsson, SusannSandgren, OlaGolovleva, Irina
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