Kinetic and stability analysis of PKU mutations identified in BH 4-responsive patients

Molecular Genetics and Metabolism

Volumn 86, Issue SUPPL., 2005, Pages 11-16

  Pérez, Belén ^a   Desviat, Lourdes R ^a   Gómez Puertas, Paulino ^a   Martínez, Aurora ^b   Stevens, Rymond C ^c   Ugarte, Magdalena ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b UNIVERSITY OF BERGEN   (Norway)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

Chemical chaperon; KM mutants; PAH gene mutations; PKU; Tetrahydrobiopterin

Indexed keywords

MUTANT PROTEIN; POLYCYCLIC AROMATIC HYDROCARBON; TETRAHYDROBIOPTERIN;

BINDING AFFINITY; DOSE RESPONSE; DRUG BINDING; DRUG EFFECT; GENETIC STABILITY; HUMAN; IN VITRO STUDY; KINETICS; LOADING TEST; MISSENSE MUTATION; MOLECULAR MECHANICS; MOLECULAR STABILITY; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; SHORT SURVEY;

EID: 28844490531     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.06.009     Document Type: Review

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