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- xi, 304 p. : ill.
Cote : QZ 50 Y72m 2010

Génétique médicale ; Aberrations chromosomiques ; Maladies génétiques

Medical Genetics provides medical and biomedical science students with an understanding of the basic principles of human genetics as they relate to clinical practice. Each of the initial chapters focuses on a traditional cornerstone of human genetics (molecular genetics, cytogenetics, Mendelian inheritance, polygenic inheritance, population genetics) with a major emphasis on clinical relevance. These are followed by consideration of subjects of specific medical importance such as the haemoglobinopathies, developmental genetics, cancer genetics and pharmacogenetics, with due attention to topical and evolving issues such as pharmacogenomics, gene therapy and therapeutic cloning. The final chapters provide an explanation of the genetically related clinical skills and competencies expected of a medical student, together with an overview of the principles of clinical genetics, a rapidly developing clinical specialty which now impinges on almost every aspect of medical practice.

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