Neurofibromatosis Type 1: Molecular and Cellular Biology - Couverture rigide

Couverture rigide

ISBN 10 : 3642328636 ISBN 13 : 9783642328633

Editeur : Springer-Verlag Berlin and Heidelberg GmbH & Co. K, 2013

Synopsis

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.

A propos du livre

Présentation de l'éditeur

Neurofibromatosis type 1 (NF1) is a common disease affecting 1 in 4000 individuals world-wide. Symptoms include facial and body disfigurement, mental retardation and abnormalities of the cardiovascular, renal and endocrine systems. The book begins with

Détails de l'édition

• Éditeur: Springer-Verlag Berlin and Heidelberg GmbH & Co. K
• Date d'édition: 2013
• Langue: anglais
• ISBN 10: 3642328636
• ISBN 13: 9783642328633
• Reliure: Relié
• Nombre de pages: 733
• Éditeur: Upadhyaya Meena, Cooper David N
• Coordonnées du fabricant: ProductSafety@springernature.com; ProductSafety@springernature.com; ; Poststr. 9; Darmstadt; 64293; Allemagne