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Neurofibromatosis Type 1 - Molecular and Cellular Biology (Paperback, Softcover reprint of the original 1st ed. 2012)
Loot Price: R5,631
Discovery Miles 56 310
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Neurofibromatosis Type 1 - Molecular and Cellular Biology (Paperback, Softcover reprint of the original 1st ed. 2012)
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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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