Neurofibromatosis Type 1: Molecular and Cellular Biology by Meena Upadhyaya,David N Cooper

By Meena Upadhyaya,David N Cooper

Neurofibromatosis variety 1 (NF1), as a result of mutational inactivation of the NF1 tumour suppressor gene, is likely one of the most typical dominantly inherited human problems, affecting 1 in 3000 participants around the world. This e-book provides in concise model, yet as comprehensively as attainable, our present country of information at the molecular genetics, molecular biology and mobile biology of this tumour predisposition syndrome.

Written by means of the world over well-known specialists within the box, the forty four chapters that represent this edited quantity give you the reader with a vast evaluation of the medical good points of the ailment, the constitution and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the constitution and serve as of its protein product (neurofibromin), NF1 enhancing loci, the molecular pathology of NF1-associated tumours, animal versions of the affliction, psycho-social facets and destiny customers for healing treatment.

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