tailieunhanh - GENOMIC DISORDERS The Genomic Basis of Disease
Uncovering Recurrent Submicroscopic Rearrangements As a Cause of Disease For five decades since Fred Sanger's (1) seminal discovery that proteins have a specific structure, since Linus Pauling's (2) discovery that hemoglobin from patients with sickle cell anemia is molecularly distinct, and since Watson and Crick's (3) elucidation of the chemical basis of heredity, the molecular basis of disease has been addressed in the context of how mutations affect the structure, function, or regulation of a gene or its protein product. Molecular medicine has functioned in the context of a genocentric world. During the last decade it became apparent, however, that many disease traits are best explained not by. | r dcrtKp Genomic . Disorders The Genomic Basis of Disease Edited by J mes R. Lupski Md7 PhD ft b Pawel Stankiewicz md PhD w Humana Press. Genomic .
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