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

Detalhes bibliográficos
Autor principal: Leandro, P (author)
Outros Autores: Rivera, I (author), Lechner, MC (author), de Almeida, IT (author), Konecki, D (author)
Formato: article
Idioma:eng
Publicado em: 2015
Assuntos:
Biochemistry & Molecular Biology
Genetics & Heredity
Medicine, Research & Experimental
Texto completo:http://hdl.handle.net/10451/20935
País:Portugal
Oai:oai:repositorio.ul.pt:10451/20935

Texto Completo

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

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