1st Edition

Protein Dysfunction in Human Genetic Disease

Edited By DM Swallow, YH Edwards Copyright 1997
    272 Pages
    by Garland Science

    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.

    Mutation and Protein Dysfunction; Haemoglobin: Glucose 6-phosphate Dehydrogenase; Glycogen Storage disease due to Phosphorylase Kinase Deficiency; The Retinoblastoma Tumour Suppressor Protein and Cancer; Rhodopsin Mutations in Photoreceptor Degeneration:

    Biography

    Swallow\, DM; Edwards\, YH

    "There are excellent chapters on many other disorders arising from dysfunctional proteins, which are all good descriptors of molecular and cellular mechanisms of disease." ; "Anyone interested in biology or human medicine would greatly benefit from readi