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  • ISBN: 9780122204432
  • ISBN10: 0122204433

Neurofibromatosis Type I from Genotype to Phenotype

by David N. Cooper

  • List Price: $135.95
  • Binding: Hardcover
  • Publisher: Academic Pr
  • Publish date: 12/01/1999
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Description: Neurofibromatosis Type I (NFI) is one of the most common dominantly inherited neurogenetic disorders, affecting 1 in 4000 individuals worldwide. Symptoms include facial and body disfigurement, mental retardation, and abnormalities of the cardiovascular, renal, and endocrine systems. This book is written for a broad readership ranging from students to professionals, providing the reader with a basic overview of the disease before discussing the most recent research and therapeutic developments in detail. It is essential reading for medical geneticists, molecular biologists, dermatologists, oncologists, neurologists, genetic counselors, general practitioners and research students. The volume covers clinical aspects of the disease: gene structure, expression, and mutation; structural and functional aspects of the encoded protein neurofibromatin; the role of the NGI gene as a tumor suppressor; the emerging genotype -- phenotype relationship for NFI; animal models of the disease, and future prospects for disease treatment and prevention.
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