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Phenylketonuria (PKU)


  • Post Date 2020-03-16T08:41:22+00:00
  • Post Category Academic Papers

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Phenylketonuria (PKU)

In this paper, you are supposed to present an essay on Disease Phenylketonuria (PKU). Your report must include an introduction to the diseases, genetics, number of genes, types of mutations, frequency of mutation in the human population, frequency of affected individuals, and biochemical pathway affected. Lastly, in your report explain the biochemical outcome, biological outcome and potential treatments available for the disease. Use a diagram to support your report.

◆ use a drawing program

◆ or draw by hand, photograph with your phone, and insert image into the


– with short figure legend

◆ title

◆ description of any annotations or color labels

◦ structure of the paper

– five subheadings (underline each subheader)

◆ introduction (what is the disease?)

◆ genetics

• number of genes

• type of mutation(s) (i.e., single base change, deletion, insertion, etc.)

• frequency of mutation in the human population

• frequency of affected individuals

◆ biochemical pathway affected

• figure

• what is the biochemical outcome?

◆ what is the biological outcome?

◆ any potential treatment(s) available?



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