Abstract
In little more than a decade, the biologic importance and clinical significance of keratin intermediate filaments in epithelial cells has become very evident. Indeed, several autosomal dominant (and less commonly, recessive) human diseases involving mutated keratin genes have been described (Irvine and McLean, 1999;Smith, 2003). From such studies, the accumulating mutation databases provide useful clinical information for predicting prognosis, optimizing genetic counseling, and, if clinically and ethically appropriate, undertaking DNA-based prenatal diagnosis. Delineation of the exact nature of the pathogenic mutations also provides a basis for the development of suitable and perhaps optimal approaches to gene therapy.
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