Figure 7-24 Pedigree of Leber hereditary optic neuropathy, a form of adult-onset blindness caused by a defect in mitochondrial DNA. Inheritance is only through the maternal lineage, in agreement with the…
References for Specific Topics Arora N, Daley GQ. Pluripotent stem cells in research and treatment of hemoglobinopathies. Cold Spring Harb Perspect Med. 2012;2:a011841. Bélanger-Quintana A, Burlina A, Harding CO, et…
Figure 3-11 Allelic expression patterns for a gene sequence with a transcribed DNA variant (here, a C or a T) to distinguish the alleles. As described in the text, the relative abundance…
General References Campeau PM, Scriver CR, Mitchell JJ. A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism. Mol Genet Metab. 2008;95:11–16. Dietz HC. New therapeutic approaches to…
Precision Medicine: the Present and Future of the Treatment of Mendelian Disease The treatment of single-gene diseases embodies the concept of precision medicine tailored to the individual patient as deeply…
Affected infants are usually normal at birth but develop gastrointestinal problems, cirrhosis of the liver, and cataracts in the weeks after they are given milk. The pathogenesis is thought to…
