Protein Dysfunction in Human Genetic Disease  book cover
1st Edition

Protein Dysfunction in Human Genetic Disease

Edited By

DM Swallow


YH Edwards

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ISBN 9781859960363
Published September 1, 1997 by Garland Science
272 Pages

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Book Description

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.

Table of Contents

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:

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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