Three mutations that cause fifferent [i.e. different] forms of canine neuronal ceroid lipofuscinosis

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Three mutations that cause fifferent [i.e. different] forms of canine neuronal ceroid lipofuscinosis

Please use this identifier to cite or link to this item: http://hdl.handle.net/10355/4592

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dc.contributor.advisor Johnson, Gary S. en
dc.contributor.author Awano, Tomoyuki en_US
dc.date.accessioned 2010-01-12T17:48:42Z
dc.date.available 2010-01-12T17:48:42Z
dc.date.issued 2006 en_US
dc.date.submitted 2006 Spring en
dc.identifier.other AwanoT-050506-T5068 en_US
dc.identifier.uri http://hdl.handle.net/10355/4592
dc.description Title from title screen of research.pdf file (viewed on December 22, 2006). en_US
dc.description The entire dissertation/thesis text is included in the research.pdf file; the official abstract appears in the short.pdf file (which also appears in the research.pdf); a non-technical general description, or public abstract, appears in the public.pdf file. en_US
dc.description "May 2006" en_US
dc.description Includes bibliographical references. en_US
dc.description Thesis (M.S.) University of Missouri-Columbia 2006. en_US
dc.description Dissertations, Academic -- University of Missouri--Columbia -- Veterinary biomedical sciences. en_US
dc.description.abstract Neuronal ceroid-lipofuscinosis (NCL), also known as Battens disease, is really a group of inherited neurodegenerative diseases. A common feature of the ceroid lipofuscinoses is the deposition of autofluorescent cytoplasmic storage material in cells in the brain, retina, and many other tissues. The major symptoms are mental retardation, visual failure, lose of motor skills, seizures, and eventually premature death. In the European countries and the USA, the disease affects one in 12,500 to 100,000 people. Usually children appear to be healthy at birth and develop normally until the onset of the disease. Canine NCLs have been reported in a variety of breeds where they are important as veterinary diseases and as potential models for human NCLs. We have discovered that a missense mutation in the CLN8 gene causes NCL in English Setters, a missense mutation in the CTSD gene causes American Bulldog NCL, and frame shift mutation in the CLN2 gene causes Dachshund NCL. en_US
dc.language.iso en_US en_US
dc.publisher University of Missouri--Columbia en_US
dc.relation.ispartof 2006 Freely available theses (MU) en_US
dc.subject.lcsh Dogs -- Diseases -- Genetic aspects en_US
dc.subject.lcsh Neuronal ceroid-lipofuscinosis -- Genetic aspects en_US
dc.title Three mutations that cause fifferent [i.e. different] forms of canine neuronal ceroid lipofuscinosis en_US
dc.type Thesis en_US
thesis.degree.discipline Veterinary biomedical sciences en_US
thesis.degree.grantor University of Missouri--Columbia en_US
thesis.degree.name M.S. en_US
thesis.degree.level Masters en_US
dc.identifier.merlin .b57475234 en_US
dc.relation.ispartofcommunity University of Missouri-Columbia. Graduate School. Theses and Dissertations. Theses. 2006 Theses


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