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Genetics --- Genome, Human --- Human genetics --- Human genome --- English

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Human genetics --- Molecular biology --- Human genome --- Génétique humaine --- Génome humain --- Génétique humaine --- Génome humain

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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. 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.  .

Medical genetics. --- Molecular biology. --- Neurofibromatosis. --- Pathology, Molecular. --- Neurofibromatosis --- Peripheral Nervous System Diseases --- Neurofibromatoses --- Biology --- Heredodegenerative Disorders, Nervous System --- Biological Science Disciplines --- Neoplastic Syndromes, Hereditary --- Neurofibroma --- Neurocutaneous Syndromes --- Neuromuscular Diseases --- Genetic Diseases, Inborn --- Natural Science Disciplines --- Nervous System Diseases --- Nerve Sheath Neoplasms --- Neoplasms --- Neurodegenerative Diseases --- Neoplasms, Nerve Tissue --- Diseases --- Disciplines and Occupations --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Neoplasms by Histologic Type --- Neurofibromatosis 1 --- Genetics --- Medicine --- Health & Biological Sciences --- Pathology --- Oncology --- Internal medicine. --- Medicine, Internal --- Recklinghausen's disease --- Von Recklinghausen's disease --- Medicine. --- Cancer research. --- Human genetics. --- Neurosciences. --- Oncology. --- Biomedicine. --- Human Genetics. --- Cancer Research. --- Molecular Medicine. --- Phakomatoses --- Oncology  . --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Medical sciences --- Physicians --- Tumors --- Neural sciences --- Neurological sciences --- Neuroscience --- Nervous system --- Heredity, Human --- Physical anthropology --- Health Workforce --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology --- Cancer research

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Mutation (Biology) --- Human genetics. --- Genetic disorders.

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Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.

Medical genetics. --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetic aspects --- Medical genetics