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  • 1
    Keywords: Eye Diseases genetics ; Gene Therapy ; Genetic Diseases, Inborn ; Genetic Predisposition to Disease ; Molecular Biology ; Epidemiology ; Genetics ; Molecular Biology ; Neurobiology ; Ophthalmology
    Description / Table of Contents: The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers.In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight
    Type of Medium: Online Resource
    Pages: VI + 224 S
    Edition: Online-Ausg. Online-Ressource Karger eBooks Collection 1997-2009
    ISBN: 9783318009712
    Series Statement: Developments in ophthalmology 37
    Language: English
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Molecular genetics and genomics 232 (1992), S. 322-327 
    ISSN: 1617-4623
    Keywords: Carrot ; Mitochondria ; coxII ; Group II introns
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary The gene for cytochrome oxidase subunit II (coxII) in carrot is encoded by a unique locus in the mitochondrial genome. In contrast to the coxII genes in the numerous other plant species investigated to date, the coding region is interrupted by two group II introns. The carrot 5′ intron is the homologue of the single intervening sequence found in several monocot and dicot coxII genes. Sequences similar to the 3′ intron of the carrot coxII gene have not been reported previously and are not detectable by hybridization with Oenothera mtDNA. Northern hybridizations indicate complex precursor transcript patterns with mRNA molecules up to 10 kb length. The excised intron sequences appear to be stably maintained in the mRNA pool. Amino acid sequence comparisons suggest that the carrot coxII mRNA needs to be edited by numerous C to U transitions.
    Type of Medium: Electronic Resource
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