Genomic Disorders - E-book

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Genomic Disorders - ENG

The Genomic Basis Of Disease

James R. Lupski; ?Pawel T. Stankiewicz

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Sinopsis

ISBN:	9781597450393
Formato:	Page Fidelity
Idioma:	Inglés
Editorial:	Springer Nature
Tema:	Medicina
Subtema:	Patología
Año de publicación:	2007-11-10

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

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