Neurofibromatosis Type 1:: From Genotype to Phenotype (Human Molecular Genetics) [Hardcover]

Meena Upadhyaya (Author), David Cooper (Author)

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Book Description

Publication Date: 15 Jun 1998 | ISBN-10: 1859961916 | ISBN-13: 978-1859961919

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

#outer_postBodyPS { display: none; } #psGradient { display: none; } #psPlaceHolder { display: none; } #psExpand { display: none; } 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

Product details

Hardcover: 260 pages
Publisher: Garland Science (15 Jun 1998)
Language: English
ISBN-10: 1859961916
ISBN-13: 978-1859961919
Product Dimensions: 23.4 x 15.8 x 2 cm
Amazon Bestsellers Rank: 4,541,438 in Books (See Top 100 in Books)

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From the Back Cover

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: Molecular and Cellular Biology will be of great value to medical geneticists, molecular and cellular biologists, oncologists, dermatologists, neurologists, genetic counsellors and general practitioners alike. --This text refers to an alternate Hardcover edition.

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