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Volumn 28, Issue 6, 2009, Pages 294-299

The missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro

(6) Stojiljkovic, Maja a Pérez, Belén b Desviat, Lourdes R b Aguado, Cristina b Ugarte, Magdalena b Pavlovic, Sonja a

b UNIVERSIDAD AUTÓNOMA DE MADRID (Spain)

Author keywords

Chaperones; Expression analysis; Human phenylalanine hydroxylase gene mutation; Phenylalanine hydroxylase activity; Phenylketonuria

Indexed keywords

AMINO ACID; CHAPERONE; PHENYLALANINE 4 MONOOXYGENASE; SAPROPTERIN;

ARTICLE; ENZYME ACTIVITY; ENZYME SUBSTRATE; ESCHERICHIA COLI; EUKARYOTIC CELL; GENE MUTATION; HEPATOMA CELL; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROKARYOTIC CELL; PROTEIN STABILITY; PROTEIN STRUCTURE;

CELL LINE, TUMOR; ESCHERICHIA COLI; GENE EXPRESSION; HUMANS; MUTATION, MISSENSE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

ESCHERICHIA COLI; EUKARYOTA; PROKARYOTA;

EID: 70349462935 PISSN: 15723887 EISSN: 15734943 Source Type: Journal
DOI: 10.1007/s10930-009-9194-z Document Type: Article

Times cited : (8)

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