The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase

The molecular mechanism underlying the metabolic defect in phenylketonuria (PKU) patients carrying the V388M missense mutation of the phenylalanine hydroxylase (PAH) gene has been characterized. An in vitro prokaryotic expression system has been used to p

Bibliographic Details
Main Author: Leandro, P (author)
Other Authors: Rivera, I (author), Lechner, MC (author), de Almeida, IT (author), Konecki, D (author)
Format: article
Language:eng
Published: 2015
Subjects:
Biochemistry & Molecular Biology
Genetics & Heredity
Medicine, Research & Experimental
Online Access:http://hdl.handle.net/10451/20935
Country:Portugal
Oai:oai:repositorio.ul.pt:10451/20935

Internet

http://hdl.handle.net/10451/20935

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