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.
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