Analysis of Triplet Repeat Disorders (Human Molecular Genetics) - Hardcover

9781859962664: Analysis of Triplet Repeat Disorders (Human Molecular Genetics)
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Analysis of Triplet Repeat Disorders is aimed at clinicians and scientists who work with these diseases or who have an interest in the field. Using the clinical picture of these diseases as a starting point, the book reviews and integrates the current understanding of their molecular pathologies, the genotype-phenotype relationships, the mutational processes of trinucleotide repeats, and the laboratory and clinical issues relating to genetic testing for these disorders.

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The clinical picture of diseases caused by trinucleotide repeats, such as fragile X syndrome, myotonic dystrophy, Huntington's disease and forms of spinocerebellar ataxia, provide the starting point for this authoritative review volume.
The book proceeds to integrate the current understanding of the molecular pathologies of these diseases, their genotype-phenotype relationships, the mutational processes involved and the laboratory and clinical issues relating to genetic testing for these disorders.
Clinicians and researchers in genetics, neuroscience, pediatrics and psychiatry will all benefit from the comprehensive overviews contributed by recognized world experts.

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9780122204319: Analysis of Triplet Repeat Disorders, (Human Molecular Genetics)

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