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In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.

Proteins - 1 Jun 2021

Lopez Andrea, Havranek Brandon, Papadantonakis George A, Islam Shahidul M

Abstract excerpt

Phenylketonuria (PKU) is a genetic disorder that if left untreated can lead to behavioral problems, epilepsy, and even mental retardation. PKU results from mutations within the phenylalanine-4-hydroxylase (PAH) gene that encodes for the PAH protein. The study of all PAH causing mutations is improbable using experimental techniques. In this study, a collection of in silico resources, sorting intolerant from...

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PMID: 33491267
DOI: 10.1002/prot.26051

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