Neurofibromatosis Type 1

Neurofibromatosis Type 1
Author :
Publisher : Springer Science & Business Media
Total Pages : 711
Release :
ISBN-10 : 9783642328640
ISBN-13 : 3642328644
Rating : 4/5 (644 Downloads)

Book Synopsis Neurofibromatosis Type 1 by : Meena Upadhyaya

Download or read book Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Springer Science & Business Media. This book was released on 2013-01-29 with total page 711 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Neurofibromatosis Type 1 Related Books

Neurofibromatosis Type 1
Language: en
Pages: 711
Authors: Meena Upadhyaya
Categories: Medical
Type: BOOK - Published: 2013-01-29 - Publisher: Springer Science & Business Media

GET EBOOK

Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disord
Multidisciplinary Approach to Neurofibromatosis Type 1
Language: en
Pages: 316
Authors: Gianluca Tadini
Categories: Medical
Type: BOOK - Published: 2020-06-02 - Publisher: Springer Nature

GET EBOOK

This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genoderm
Diagnosis of Musculoskeletal Tumors and Tumor-like Conditions
Language: en
Pages: 346
Authors: Piero Picci
Categories: Medical
Type: BOOK - Published: 2019-12-06 - Publisher: Springer Nature

GET EBOOK

This book, now in a second revised edition, casts light on the often complex diagnosis of musculoskeletal tumors and tumor-like conditions by drawing on the exp
Neurofibromatosis Type 1
Language: en
Pages: 0
Authors: Richard G. Morgan
Categories: Medical
Type: BOOK - Published: 2021 - Publisher: Nova Science Publishers

GET EBOOK

This monograph includes five chapters about neurofibromatosis type 1 (NF1), a condition characterised by changes in skin colouring and the growth of tumours alo
Cassidy and Allanson's Management of Genetic Syndromes
Language: en
Pages: 1104
Authors: John C. Carey
Categories: Science
Type: BOOK - Published: 2021-01-27 - Publisher: John Wiley & Sons

GET EBOOK

MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Geneti