دانلود کتاب اختلال عملکرد پروتئین در بیماری ژنتیکی انسان
Protein Dysfunction in Human Genetic Disease 1st Edition

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.

Review

Contents

۱ Mutation and protein dysfunction.
۲ Haemoglobin.
۳ Glucose 6-phosphate dehydrogenase.
۴ Glycogen storage disease due to phosphorylase kinase deficiency.
۵ Factor VIII and haemophilia A.
۶ GM2 gangliosidosis and structure-function relationships in β-hexosaminidase.
۷ The low-density lipoprotein (LDL) receptor and familial hypercholesterolaemia.
۸ Fibroblast growth factor receptors and their role in human dysmorphogenesis.
۹ The retinoblastoma tumour suppressor protein and cancer.
۱۰ Rhodopsin mutations in photoreceptor degeneration: implications for protein dysfunction.
۱۱ Spectrin and other red cell membrane proteins in hereditary elliptocytosis and spherocytosis.
۱۲ Dystrophin and the molecular genetics of muscular dystrophy.
۱۳ Fatal familial insomnia, Creutzfeldt-Jakob disease and the prion protein.