Emery and Rimoin's Principles and Practice of Medical Genetics

Chapter 23- Diagnostic Molecular Genetics. Wayne W. Grody, Joshua L. Deignan; Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013, Pages 1-31. http://dx.doi.org/10.1016/B978-0-12-383834-6.00030-6

FIGURE 23-9. PCR analysis of Friedreich ataxia GAA trinucleotide repeat expansion. Arrow indicates the size of PCR products generated from normal alleles. The samples shown are 1, normal; 2, homozygous expanded; and 3, heterozygous.

Chapter 101 – Iron Metabolism and Related Disorders. Kaveh Hoda, Christopher L. Bowlus, Thomas W. Chu, Jeffrey R. Gruen; Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013, Pages 1-41. http://dx.doi.org/10.1016/B978-0-12-383834-6.00106-3


Chapter 118 – The Hereditary Ataxias. Puneet Opal, Huda Zoghbi; Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013, Pages 1-32. http://dx.doi.org/10.1016/B978-0-12-383834-6.00125-7