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1 Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.- Introduction: Adrenal Steroidogenesis.- The Physiology of 21-Hydroxylase Deficiency.- Genetics of the 21-Hydroxylase Locus.- Southern Blotting Studies in CAH.- Gene Defects Detectable by Southern Blotting.- Point Mutations in CAH.- Prenatal Diagnosis of CAH.- References.- 2 Genetic Aspects of Amyloidosis.- Amyloidosis: Historical Background.- Amyloidosis: Definition.- Chemical Classification of the Amyloid Syndromes.- Transthyretin-Associated Amyloidosis.- Familial Mediterranean Fever and Other Hereditary Amyloidoses of the Amyloid A (AA) Type.- ACYS (Cystatin C) Hereditary Cerebral Hemorrhage with Amyloidosis: (HCHWA)-Iceland.- Aß Amyloidosis: Dutch-Type HCHWA, Alzheimer's Disease, and Down Syndrome.- AGEL: Familial Amyloidosis of the Finnish Type.- AAPOAI: Familial Amyloid Polyneuropathy, Iowa-(Van Allen).- AC AL: Multiple Endocrine Neoplasia.- Miscellaneous Hereditary Amyloidoses.- The Treatment of Hereditary Forms of Amyloidosis.- Conclusions.- References.- 3 Huntington's Disease.- Clinical Characteristics of HD.- Neuropathology and Neurochemistry.- Epidemiology.- A Molecular Genetic Approach to Investigation of HD.- Success of the Linkage Strategy.- Defining the HD Candidate Region.- Isolation of DNA Probes from the Candidate Region.- Fine Structure Physical Mapping of the Candidate Region.- Genetic Mapping of the Candidate Region.- Positioning of the HD Gene by Apparent Crossover Events.- Linkage Disequilibrium.- What Is the HD Gene?.- References.- 4 Biochemical and Molecular Genetics of Cystic Fibrosis.- Early Attempts to Identify Biochemical Markers for CF.- Epithelial Ion Transport.- CF Gene Mapping.- Identification of the CF Gene.- The CF Gene Product(CFTR).- Genotype and Phenotype.- Explanations for High CF Gene Frequency.- Genetic Diagnosis.- Concluding Remarks.- References.- 5 Molecular Genetics of von Recklinghausen Neurofibromatosis.- Clinical Features.- Genetics of NF1.- Biochemical and Neurobiological Aspects.- Molecular Genetics.- Future Directions.- References.- Addenda.
1 Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.- Introduction: Adrenal Steroidogenesis.- The Physiology of 21-Hydroxylase Deficiency.- Genetics of the 21-Hydroxylase Locus.- Southern Blotting Studies in CAH.- Gene Defects Detectable by Southern Blotting.- Point Mutations in CAH.- Prenatal Diagnosis of CAH.- References.- 2 Genetic Aspects of Amyloidosis.- Amyloidosis: Historical Background.- Amyloidosis: Definition.- Chemical Classification of the Amyloid Syndromes.- Transthyretin-Associated Amyloidosis.- Familial Mediterranean Fever and Other Hereditary Amyloidoses of the Amyloid A (AA) Type.- ACYS (Cystatin C) Hereditary Cerebral Hemorrhage with Amyloidosis: (HCHWA)-Iceland.- Aß Amyloidosis: Dutch-Type HCHWA, Alzheimer's Disease, and Down Syndrome.- AGEL: Familial Amyloidosis of the Finnish Type.- AAPOAI: Familial Amyloid Polyneuropathy, Iowa-(Van Allen).- AC AL: Multiple Endocrine Neoplasia.- Miscellaneous Hereditary Amyloidoses.- The Treatment of Hereditary Forms of Amyloidosis.- Conclusions.- References.- 3 Huntington's Disease.- Clinical Characteristics of HD.- Neuropathology and Neurochemistry.- Epidemiology.- A Molecular Genetic Approach to Investigation of HD.- Success of the Linkage Strategy.- Defining the HD Candidate Region.- Isolation of DNA Probes from the Candidate Region.- Fine Structure Physical Mapping of the Candidate Region.- Genetic Mapping of the Candidate Region.- Positioning of the HD Gene by Apparent Crossover Events.- Linkage Disequilibrium.- What Is the HD Gene?.- References.- 4 Biochemical and Molecular Genetics of Cystic Fibrosis.- Early Attempts to Identify Biochemical Markers for CF.- Epithelial Ion Transport.- CF Gene Mapping.- Identification of the CF Gene.- The CF Gene Product(CFTR).- Genotype and Phenotype.- Explanations for High CF Gene Frequency.- Genetic Diagnosis.- Concluding Remarks.- References.- 5 Molecular Genetics of von Recklinghausen Neurofibromatosis.- Clinical Features.- Genetics of NF1.- Biochemical and Neurobiological Aspects.- Molecular Genetics.- Future Directions.- References.- Addenda.
Rezensionen
From reviews of earlier volumes:`. . . extremely valuable . . . thoroughly recommended. Annals of Human Genetics
`The publisher and authors are to be congratulated on bringing so much biochemical material relating to human disease together so efficiently on an annual basis.' Journal of Applied Biochemistry
From reviews of earlier volumes: `. . . extremely valuable . . . thoroughly recommended. Annals of Human Genetics
`The publisher and authors are to be congratulated on bringing so much biochemical material relating to human disease together so efficiently on an annual basis.' Journal of Applied Biochemistry
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