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  1. NCL Resource
    Full Name of the Resource : Polymorphisms in neuronal ceroid lipofuscinoses genes
    Resource Category : Databases -> Human Genes and Diseases -> Gene-System or Disease-Specific Databases

    Brief Description : The NCL Mutation database (http://www.ucl.ac.uk/NCL) contains published mutations and polymorphisms in the neuronal ceroid lipofuscinoses (NCL) genes together with unpublished data included with permission. It describes approximately 150 mutations in six human genes (CLN1/PPT, CLN2/TPP1, CLN3, CLN5, CLN6, CLN8) and mutations in three naturally occurring animal models (nclf mouse - CLN6; mnd mouse - CLN8; Swedish landrace sheep - CTSD). Mutations are described in terms of nucleotide changes and the predicted effect on the protein. To aid diagnostic services the number of families carrying the mutation and their country of origin is indicated together with any effect on a restriction site. Where possible information pertaining to the severity of disease associated with a given mutation is indicated. The data is drawn from published work and information sent directly to the curator. The numbers representing families carrying a particular mutation will be an underestimate since they do not include those families investigated in diagnostic laboratories

    Institute/s :
    University College London, United Kingdom
    Address of Institute/s :
    University College London, United Kingdom
    Country : United Kingdom


    Authors/Contributors : Mole, S.E.
    Contact Email : S.Mole@ucl.ac.uk
    Year : 2004
    Language : English