| 000 | 01667 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250513193917.0 | ||
| 264 | 0 | _c19991119 | |
| 008 | 199911s 0 0 eng d | ||
| 022 | _a0022-2593 | ||
| 024 | 7 |
_a10.1136/jmg.36.10.779 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aShimozawa, N | |
| 245 | 0 | 0 |
_aDefective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cOct 1999 |
||
| 300 |
_a779-81 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCatalase _xmetabolism |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xenzymology |
| 650 | 0 | 4 | _aFluorescent Antibody Technique |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPeroxisomal Biogenesis Factor 2 |
| 650 | 0 | 4 |
_aPeroxisomal Disorders _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aTemperature |
| 650 | 0 | 4 | _aTransfection |
| 650 | 0 | 4 |
_aZellweger Syndrome _xgenetics |
| 700 | 1 | _aImamura, A | |
| 700 | 1 | _aZhang, Z | |
| 700 | 1 | _aSuzuki, Y | |
| 700 | 1 | _aOrii, T | |
| 700 | 1 | _aTsukamoto, T | |
| 700 | 1 | _aOsumi, T | |
| 700 | 1 | _aFujiki, Y | |
| 700 | 1 | _aWanders, R J | |
| 700 | 1 | _aBesley, G | |
| 700 | 1 | _aKondo, N | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 36 _gno. 10 _gp. 779-81 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.36.10.779 _zAvailable from publisher's website |
| 999 |
_c10485792 _d10485792 |
||