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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, p. 229-234Conference paper, Published paper (Refereed)
Abstract [en]

 

 
Place, publisher, year, edition, pages
Springer , 2008. Vol. 613, p. 229-234
Series
Advances in experimental medicine and biology
Keywords [en]
PYK2-binding, cone dystrophy
National Category
Ophthalmology Genetics and Genomics
Research subject
Genetics
Identifiers
URN: urn:nbn:se:umu:diva-35500DOI: 10.1007/978-0-387-74904-4_26PubMedID: 18188949Scopus ID: 2-s2.0-38949198058Local ID: 744ISBN: 978-0-387-74902-0 (print)OAI: oai:DiVA.org:umu-35500DiVA, id: 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: 2025-02-01Bibliographically approved

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

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