000 01804 a2200505 4500
005 20250513155355.0
264 0 _c19990201
008 199902s 0 0 eng d
022 _a0002-9297
024 7 _a10.1086/302163
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aForbes, J R
245 0 0 _aFunctional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
_h[electronic resource]
260 _bAmerican journal of human genetics
_cDec 1998
300 _a1663-74 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdenosine Triphosphatases
_xchemistry
650 0 4 _aApoenzymes
_xmetabolism
650 0 4 _aBiological Transport
650 0 4 _aCarrier Proteins
_xchemistry
650 0 4 _aCation Transport Proteins
650 0 4 _aCell Division
650 0 4 _aCeruloplasmin
_xmetabolism
650 0 4 _aCopper
_xmetabolism
650 0 4 _aCopper Transport Proteins
650 0 4 _aCopper-Transporting ATPases
650 0 4 _aCysteine
_xgenetics
650 0 4 _aDNA, Complementary
_xgenetics
650 0 4 _aFungal Proteins
_xgenetics
650 0 4 _aGenetic Complementation Test
650 0 4 _aHepatolenticular Degeneration
_xenzymology
650 0 4 _aHumans
650 0 4 _aImmune Sera
650 0 4 _aIron
_xmetabolism
650 0 4 _aMutagenesis, Site-Directed
650 0 4 _aMutation, Missense
650 0 4 _aPhenotype
650 0 4 _aRecombinant Fusion Proteins
_ximmunology
650 0 4 _aSaccharomyces cerevisiae
_xenzymology
650 0 4 _aSaccharomyces cerevisiae Proteins
650 0 4 _aTemperature
700 1 _aCox, D W
773 0 _tAmerican journal of human genetics
_gvol. 63
_gno. 6
_gp. 1663-74
856 4 0 _uhttps://doi.org/10.1086/302163
_zAvailable from publisher's website
999 _c9801021
_d9801021