| 000 | 01246 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250511221330.0 | ||
| 264 | 0 | _c19910802 | |
| 008 | 199108s 0 0 eng d | ||
| 022 | _a0014-5793 | ||
| 024 | 7 |
_a10.1016/0014-5793(91)80760-z _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSchnabel, D | |
| 245 | 0 | 0 |
_aMutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. _h[electronic resource] |
| 260 |
_bFEBS letters _cJun 1991 |
||
| 300 |
_a57-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aBlotting, Northern |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aDNA |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGaucher Disease _xgenetics |
| 650 | 0 | 4 |
_aGlycoproteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSaposins |
| 650 | 0 | 4 | _aSphingolipid Activator Proteins |
| 700 | 1 | _aSchröder, M | |
| 700 | 1 | _aSandhoff, K | |
| 773 | 0 |
_tFEBS letters _gvol. 284 _gno. 1 _gp. 57-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/0014-5793(91)80760-z _zAvailable from publisher's website |
| 999 |
_c2066790 _d2066790 |
||