| 000 | 01672 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250513084218.0 | ||
| 264 | 0 | _c19960221 | |
| 008 | 199602s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHenseler, M | |
| 245 | 0 | 0 |
_aAnalysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cJan 1996 |
||
| 300 |
_a65-74 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCricetinae |
| 650 | 0 | 4 | _aDNA Primers |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 |
_aGlycoproteins _xbiosynthesis |
| 650 | 0 | 4 | _aGlycosylation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aKidney |
| 650 | 0 | 4 |
_aLeukodystrophy, Metachromatic _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aRNA Splicing |
| 650 | 0 | 4 |
_aRNA, Messenger _xmetabolism |
| 650 | 0 | 4 |
_aRecombinant Proteins _xbiosynthesis |
| 650 | 0 | 4 | _aReference Values |
| 650 | 0 | 4 | _aSaposins |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 | _aSphingolipid Activator Proteins |
| 650 | 0 | 4 | _aTransfection |
| 700 | 1 | _aKlein, A | |
| 700 | 1 | _aReber, M | |
| 700 | 1 | _aVanier, M T | |
| 700 | 1 | _aLandrieu, P | |
| 700 | 1 | _aSandhoff, K | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 58 _gno. 1 _gp. 65-74 |
|
| 999 |
_c8553142 _d8553142 |
||