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 (40 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

DOWNLOAD 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
Neurofibromatosis Type 1
Language: en
Pages: 0
Authors: Richard G. Morgan
Categories: Medical
Type: BOOK - Published: 2021 - Publisher: Nova Science Publishers

DOWNLOAD 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
Cardiovascular Genetics and Genomics
Language: en
Pages: 921
Authors: Dhavendra Kumar
Categories: Medical
Type: BOOK - Published: 2018-01-17 - Publisher: Springer

DOWNLOAD EBOOK

This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular gen
The Molecular Biology of Neurofibromatosis Type 1
Language: en
Pages: 81
Authors: Meena Upadhyaya
Categories: Science
Type: BOOK - Published: 2014-02-01 - Publisher: Biota Publishing

DOWNLOAD EBOOK

Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This in
Atlas of Inherited Retinal Diseases
Language: en
Pages: 262
Authors: Stephen H. Tsang
Categories: Medical
Type: BOOK - Published: 2018-12-21 - Publisher: Springer

DOWNLOAD EBOOK

This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and h