000 01872 a2200517 4500
005 20250515104311.0
264 0 _c20080416
008 200804s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.20674
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHsi, Gloria
245 0 0 _aSequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
_h[electronic resource]
260 _bHuman mutation
_cApr 2008
300 _a491-501 p.
_bdigital
500 _aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdenosine Triphosphatases
_xchemistry
650 0 4 _aAdenosine Triphosphate
_xmetabolism
650 0 4 _aBinding Sites
_xgenetics
650 0 4 _aCation Transport Proteins
_xchemistry
650 0 4 _aCeruloplasmin
_xgenetics
650 0 4 _aCopper
_xmetabolism
650 0 4 _aCopper Transport Proteins
650 0 4 _aCopper-Transporting ATPases
650 0 4 _aGenetic Complementation Test
650 0 4 _aGenetic Variation
650 0 4 _aHepatolenticular Degeneration
_xenzymology
650 0 4 _aHumans
650 0 4 _aIon Transport
650 0 4 _aModels, Biological
650 0 4 _aModels, Molecular
650 0 4 _aMutation, Missense
650 0 4 _aPhenotype
650 0 4 _aProtein Conformation
650 0 4 _aProtein Structure, Tertiary
650 0 4 _aRecombinant Proteins
_xchemistry
650 0 4 _aSaccharomyces cerevisiae
_xgenetics
650 0 4 _aSaccharomyces cerevisiae Proteins
_xgenetics
700 1 _aCullen, Lara M
700 1 _aMacintyre, Georgina
700 1 _aChen, Matthew M
700 1 _aGlerum, D Moira
700 1 _aCox, Diane W
773 0 _tHuman mutation
_gvol. 29
_gno. 4
_gp. 491-501
856 4 0 _uhttps://doi.org/10.1002/humu.20674
_zAvailable from publisher's website
999 _c17711131
_d17711131