By Meena Upadhyaya,David N Cooper
Neurofibromatosis kind 1 (NF1), because of mutational inactivation of the NF1 tumour suppressor gene, is without doubt one of the commonest dominantly inherited human problems, affecting 1 in 3000 participants world wide. This ebook offers in concise style, yet as comprehensively as attainable, our present country of data at the molecular genetics, molecular biology and mobile biology of this tumour predisposition syndrome.
Written by means of across the world famous specialists within the box, the forty four chapters that represent this edited quantity give you the reader with a extensive review of the scientific good points of the affliction, 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 editing loci, the molecular pathology of NF1-associated tumours, animal versions of the affliction, psycho-social features and destiny clients for healing treatment.
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