000 01681 a2200493 4500
005 20250514062837.0
264 0 _c20030418
008 200304s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.10198
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aPey, Angel L
245 0 0 _aPhenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
_h[electronic resource]
260 _bHuman mutation
_cApr 2003
300 _a370-8 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAmino Acid Substitution
_xgenetics
650 0 4 _aAnimals
650 0 4 _aCOS Cells
650 0 4 _aCell Line
650 0 4 _aChlorocebus aethiops
650 0 4 _aComputational Biology
_xmethods
650 0 4 _aComputer Simulation
650 0 4 _aEscherichia coli
_xenzymology
650 0 4 _aGene Expression Regulation, Enzymologic
_xgenetics
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aMice
650 0 4 _aMutation
650 0 4 _aPhenotype
650 0 4 _aPhenylalanine Hydroxylase
_xchemistry
650 0 4 _aPhenylketonurias
_xenzymology
650 0 4 _aProtein Folding
650 0 4 _aProtein Structure, Quaternary
_xgenetics
650 0 4 _aRats
650 0 4 _aRecombinant Fusion Proteins
_xchemistry
650 0 4 _aStructure-Activity Relationship
700 1 _aDesviat, Lourdes R
700 1 _aGámez, Alejandra
700 1 _aUgarte, Magdalena
700 1 _aPérez, Belén
773 0 _tHuman mutation
_gvol. 21
_gno. 4
_gp. 370-8
856 4 0 _uhttps://doi.org/10.1002/humu.10198
_zAvailable from publisher's website
999 _c12449334
_d12449334