to Developmental Biology
Figure 14-7 Diagram of the upper limb of three species: human, bird, and bat. Despite the superficially dissimilar appearance of the human arm and hand, the avian wing, and the bat wing,…
Inheritance of Disorders Caused by Mutations in the Mitochondrial Genome
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…
for Specific Topics
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…
Imbalance in Gene Expression
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…
References
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…
Medicine: the Present and Future of the Treatment of Mendelian Disease
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…
Considerations in Treating Genetic Disease
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…
