| 000 | 01861 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250517070947.0 | ||
| 264 | 0 | _c20161213 | |
| 008 | 201612s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddv611 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBode, Heiko | |
| 245 | 0 | 0 |
_aHSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cMar 2016 |
||
| 300 |
_a853-65 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 |
_aAlanine _xchemistry |
| 650 | 0 | 4 | _aCatalytic Domain |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aGas Chromatography-Mass Spectrometry |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 | _aHEK293 Cells |
| 650 | 0 | 4 |
_aHereditary Sensory and Autonomic Neuropathies _xenzymology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIsotope Labeling |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPrincipal Component Analysis |
| 650 | 0 | 4 |
_aRecombinant Proteins _xblood |
| 650 | 0 | 4 |
_aSerine _xchemistry |
| 650 | 0 | 4 |
_aSerine C-Palmitoyltransferase _xblood |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 650 | 0 | 4 |
_aSphingolipids _xblood |
| 650 | 0 | 4 | _aStructural Homology, Protein |
| 650 | 0 | 4 | _aStructure-Activity Relationship |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aBourquin, Florence | |
| 700 | 1 | _aSuriyanarayanan, Saranya | |
| 700 | 1 | _aWei, Yu | |
| 700 | 1 | _aAlecu, Irina | |
| 700 | 1 | _aOthman, Alaa | |
| 700 | 1 | _aVon Eckardstein, Arnold | |
| 700 | 1 | _aHornemann, Thorsten | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 25 _gno. 5 _gp. 853-65 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddv611 _zAvailable from publisher's website |
| 999 |
_c25554940 _d25554940 |
||