Recent years have seen rapid advances in our understanding of genetic diseases in terms of their molecular origins. The book focuses on DNA mutations which give rise to abnormalities of protein structure and function in genetic disease.
- 272 pages
- English
- ePUB (mobile friendly)
- Available on iOS & Android
eBook - ePub
Protein Dysfunction in Human Genetic Disease
About this book
Information
Table of contents
- Cover
- Half Title
- Series
- Title
- Copyright
- Contents
- Contributors
- Abbreviations
- Preface
- Foreword
- 1 Mutation and protein dysfunction.
- 2 Haemoglobin.
- 3 Glucose 6-phosphate dehydrogenase.
- 4 Glycogen storage disease due to phosphorylase kinase deficiency.
- 5 Factor VIII and haemophilia A.
- 6 GM2 gangliosidosis and structure–function relationships in β-hexosaminidase.
- 7 The low-density lipoprotein (LDL) receptor and familial hypercholesterolaemia.
- 8 Fibroblast growth factor receptors and their role in human dysmorphogenesis.
- 9 The retinoblastoma tumour suppressor protein and cancer.
- 10 Rhodopsin mutations in photoreceptor degeneration: implications for protein dysfunction.
- 11 Spectrin and other red cell membrane proteins in hereditary elliptocytosis and spherocytosis.
- 12 Dystrophin and the molecular genetics of muscular dystrophy.
- 13 Fatal familial insomnia, Creutzfeldt-Jakob disease and the prion protein.
- Index
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Yes, you can access Protein Dysfunction in Human Genetic Disease by D M Swallow,Y H Edwards in PDF and/or ePUB format, as well as other popular books in Medicine & Biochemistry in Medicine. We have over 1.5 million books available in our catalogue for you to explore.