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Article

Creating cell model of phenylketonuria disease by CRISPR-Cas9 mediated genome editing method

2019-08-15

Abstract excerpt

<title>Abstract</title> <p>Phenylketonuria (PKU) is a monogenic disorder resulting from Phenylalanine hydroxylase (PAH) enzyme deficiency in liver hepatocytes. Untreated patients have clinical signs including growth retardation, microcephaly, short stature and low IQ. As the production of tyrosine from Phenylalanine is generally dependent on this enzyme, mutant PAH will result in accumulation of byproducts (liver...

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Literature Corpus work
8d8a05fa-aa84-512b-a3b1-ce71687d7cb0
DOI
10.21203/rs.2.12920/v1
Open publication

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