| 000 | 01188 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250513152902.0 | ||
| 264 | 0 | _c19981207 | |
| 008 | 199812s 0 0 eng d | ||
| 022 | _a0141-8955 | ||
| 024 | 7 |
_a10.1023/a:1005405222252 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFleming, C J | |
| 245 | 0 | 0 |
_aA fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _cAug 1998 |
||
| 300 |
_a688-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFucosidosis _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLongevity |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aalpha-L-Fucosidase _xgenetics |
| 700 | 1 | _aSinclair, D U | |
| 700 | 1 | _aWhite, E J | |
| 700 | 1 | _aWinchester, B | |
| 700 | 1 | _aWhiteford, M L | |
| 700 | 1 | _aConnor, J M | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 21 _gno. 6 _gp. 688-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1023/a:1005405222252 _zAvailable from publisher's website |
| 999 |
_c9727441 _d9727441 |
||