From Genotype to Phenotype

Front Cover
Gulf Professional Publishing, Dec 3, 2001 - Medical - 295 pages
This volume of the Human Molecular Genetics series covers such genotype-phenotype correlations as clinical and environmental aspects, gene structure, expression, and mutation. Also discussed are models of certain diseases and future prospects for treatment and prevention. This book provides the reader with a basic overview of the physical expression of genetic disease before discussing in detail the most recent research and therapeutic developments.
 

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Contents

The mutation defines the disorder
6
toward a global biology
26
Conclusion
50
Analytical problems for geneenvironment interaction studies
68
The future for pharmacogenomics
82
The inheritance of pathogenic mtDNA defects
96
Use of RCS for analysis of immune response
119
The GNAS1 gene
131
Mechanism of rearrangement
157
Genotype to phenotype in the spinocerebellar ataxias
165
Disorders of cholesterol biosynthesis
189
Mutations in the human HOX genes
209
PITX2 gene in development
229
The hedgehog pathway and developmental disorders
239
protein degradation
275
Index
289

Mutational spectrum of GNAS1
139
Genomic disorders
147

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