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Johns Hopkins University | PH.415.866

Current Topics in Molecular Genetics I

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Provides a review of molecular diagnosis of common hereditary or neoplastic disorders for which DNA-based diagnosis is now in routine use, including FGFR3 disorders, fetal blood typing, thrombophilias, hemochromatosis, fragile X syndrome, polyglutamine disorders, hereditary breast cancers, Charcot Marie Tooth and spinal muscular atrophy, Prader Willi and Angelman syndromes, mitochondrial diseases, Duchenne and Becker muscular dystrophy, cystic fibrosis, and Smith-Lemli-Opitz Syndrome. Includes instruction in genetic risk prediction, using linkage and Bayesian analysis as well as DNA forensics and paternity testing.

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