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Neurofibromatosis Type 1 Molecular and Cellular Biology
Author
Title
Neurofibromatosis Type 1 [electronic resource] : Molecular and Cellular Biology / edited by Meena Upadhyaya, David N. Cooper.
ISBN
9783642328640
Published
Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2012.
Physical Description
XVI, 717 p. 75 illus., 60 illus. in color. digital.
Local Notes
Access is available to the Yale community.
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Access restricted by licensing agreement.
Summary
<p>Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the <i>NF1</i> 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. </p><p>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 <i>NF1</i> 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.</p><p><i>Neurofibromatosis Type 1: Molecular and Cellular Biology</i> will be of great value to medical geneticists, molecular and cellular biologists, oncologists, dermatologists, neurologists, genetic counsellors and general practitioners alike.</p><p> </p>
Variant and related titles
Springer ebooks.
Other formats
Printed edition:
Format
Books / Online
Language
English
Added to Catalog
February 05, 2013
Contents
<p>From the Contents: von Recklinghausen disease
Clinical diagnosis and atypical cases
Management and treatment of NF1: complex UK NF1 clinics
Mortality in NF1
The cognitive profile of NF1 children, therapeutic implications
Clinical expression of NF1 in monozygotic twins
Whole body MRI studies in NF1 patients
Quality of Life in NF1
<i>NF1 </i>gene: promoter, 3’UTR and complex features
Germline mutational spectrum of NF1 and Genotype-Phenotype Correlations
Splicing mechanisms and mutations in the <i>NF1 </i>gene
<i>NF1</i> Germline and somatic mosaicism
Deep intronic <i>NF1</i> mutations and possible therapeutic interventions
<i>NF1</i> microdeletions and mutational mechanisms
<i>NF1</i> somatic mutational spectrum
Social Stigma in NF1
Personalized Medicine in NF1
Future Directions - Where do we go from here.</p>.
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