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References
Bianconi E, et al. An estimation of the number of cells in the human body. Ann Hum Biol. 2013;40(6):463–71.
Matthaei JH, et al. Characteristics and composition of RNA coding units. Proc Natl Acad Sci U S A. 1962;48:666–77.
Nirenberg MW, Matthaei JH. The dependence of cell-free protein synthesis in E. coli upon naturally occurring or synthetic polyribonucleotides. Proc Natl Acad Sci U S A. 1961;47:1588–602.
NobelMedia. Nobelprize.org. 2014 [cited 2014 July 24]; Available from: http://www.nobelprize.org/nobel_prizes/medicine/laureates/1968/press.html.
Kwok SC, et al. Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry. 1985;24(3):556–61.
Donlon J, Levy H, Scriver C. Chapter 77. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Valle D et al., editors. Scriver’s OMMBID the online metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001.
AEvarsson A, et al. Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. Structure. 2000;8(3):277–91.
Scriver CR, et al. PAHdb 2003: what a locus-specific knowledgebase can do. Hum Mutat. 2003;21(4):333–44.
Waters PJ. How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. Hum Mutat. 2003;21(4):357–69.
Pey AL, et al. Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases. Am J Hum Genet. 2007;81(5):1006–24.
Maier EM, et al. Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. Hum Mol Genet. 2009;18(9):1612–23.
Coelho AI, et al. Functional correction by antisense therapy of a splicing mutation in the GALT gene. Eur J Hum Genet. 2014;7:1–7.
McCorvie TJ, et al. Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia. Biochim Biophys Acta. 2013;1832(8):1279–93.
McGill. PAHdb phenylalanine hydroxylase locus knowledgebase. 2014 [cited 2014 Aug 30]; Available from: http://www.pahdb.mcgill.ca/?Topic=Search&Section=Main&Page=0.
den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestion to describe complex mutations: a discussion. Hum Mutat. 2000:15(1):7–12 [cited 2014]: Available from: http://www.hgvs.org/mutnomen/.
Erlandsen H, et al. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci U S A. 2004;101(48):16903–8.
Zurflüh MR, et al. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat. 2008;29(1):167–75.
Farrugia R, et al. Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population. Mol Genet Metab. 2007;90(3):277–83.
Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol. 1975;94(3):441–8.
Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977;74(12):5463–7.
Special Report: Exome sequencing for clinical diagnosis of patients with suspected genetic disorders. 2013 [cited 2014 Sept 1]; Volume 28, No 3, Aug 2013: [Assessment Program]. Available from: http://www.bcbs.com/blueresources/tec/vols/28/28_03.pdf.
Burke W, Trinidad SB, Clayton EW. Seeking genomic knowledge: the case for clinical restraint. Hastings Law J. 2013;64(6):1650–64.
Evans JP, Rothschild BB. Return of results: not that complicated? Genet Med. 2012;14(4):358–60.
Grove ME, et al. Views of genetics health professionals on the return of genomic results. J Genet Couns. 2014;23(4):531–8.
Yu JH, et al. Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. Am J Hum Genet. 2014;95(1):77–84.
National Society of Genetic Counselors. Position statement: incidental findings in genetic testing. 2013 [cited 2014 Sept 1]; Available from: http://nsgc.org/p/bl/et/blogid=47&blogaid=30.
Bennett RL, et al. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns. 2008;17(5):424–33.
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Freehauf, C. (2015). Introduction to Genetics. In: Bernstein, L., Rohr, F., Helm, J. (eds) Nutrition Management of Inherited Metabolic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-14621-8_1
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