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TGFBI-related Corneal Dystrophies

Clinical Findings, Cell Biology, and Genetics

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eBook

1. Auflage, 2025


This book provides up-to-date information about the basic cell biology, protein processing mechanisms, genetics, and treatment strategies for TGFBI-related corneal dystrophies.  Extensive illustrations document the clinical appearance of these dystrophies, and details of their cell biology provide our current understanding of intracellular pathologic mechanisms related to the mutated TGFBI protein.  Descriptions of metabolic pathways involving TGFBI protein include recent information about the intracellular processing of normal and mutated TGFBI proteins.  Detailed descriptions of the pathologic basis for TGFBI-related corneal dystrophies and possible strategies for human gene therapy are provided.  This book offers a rich source of information about the pathogenesis, diagnosis, and treatment options for practicing ophthalmologists, specialists, and trainees.


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