Inherited renal disease

Katherine A. Hillman and Adrian S. Woolf

in Landmark Papers in Nephrology

Published on behalf of Oxford University Press

Published in print March 2013 | ISBN: 9780199699254
Published online April 2013 | e-ISBN: 9780191763519 | DOI:

Series: Landmark Papers in

Inherited renal disease

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Chapter 4 covers landmark papers that cover genetic aspects of renal development, cystic disease, and glomerular and tubular disorders. We have chosen to present them chronologically, as this highlights the importance of early studies based on careful and thorough clinical and laboratory observations. Such studies have laid the phenotypic groundwork that facilitated the explosion of knowledge about single-gene disorders from the mid-1980s onwards. In particular, in papers 4.6 and 4.10, we see how investigating aberrant biological pathways controlled by mutated genes opens the potential for therapeutic intervention.

Chapter.  6463 words. 

Subjects: Nephrology

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