Editors:
Represents the most comprehensive and up to date account of this common neuroectodermal disorder
An outstanding panel of scientists and clinicians covering all aspects of NF1 biology
Lessons learned from the molecular biology of NF1 tumorigenesis can be extrapolated to many other cancers
Includes supplementary material: sn.pub/extras
Includes supplementary material: sn.pub/extras
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Table of contents (44 chapters)
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Front Matter
About this book
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome.
Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
Editors and Affiliations
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School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom
Meena Upadhyaya, David N. Cooper
Bibliographic Information
Book Title: Neurofibromatosis Type 1
Book Subtitle: Molecular and Cellular Biology
Editors: Meena Upadhyaya, David N. Cooper
DOI: https://doi.org/10.1007/978-3-642-32864-0
Publisher: Springer Berlin, Heidelberg
eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)
Copyright Information: Springer-Verlag Berlin Heidelberg 2012
Hardcover ISBN: 978-3-642-32863-3Published: 30 January 2013
Softcover ISBN: 978-3-662-50717-9Published: 23 August 2016
eBook ISBN: 978-3-642-32864-0Published: 29 January 2013
Edition Number: 1
Number of Pages: XVI, 717
Topics: Human Genetics, Cancer Research, Oncology, Molecular Medicine, Neurosciences