| 书目名称 | Neurofibromatosis Type 1 | | 副标题 | Molecular and Cellul | | 编辑 | Meena Upadhyaya,David N. Cooper | | 视频video | | | 概述 | 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 f | | 图书封面 |  | | 描述 | .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.. | | 出版日期 | Book 2012 | | 关键词 | NF1 gene; genotype-phenotype correlations; mutation; neurofibromatosis type 1 | | 版次 | 1 | | doi | https://doi.org/10.1007/978-3-642-32864-0 | | isbn_softcover | 978-3-662-50717-9 | | isbn_ebook | 978-3-642-32864-0 | | copyright | Springer-Verlag Berlin Heidelberg 2012 |
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发表于 2025-3-21 16:11:40
