| 000 | 01734 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517012418.0 | ||
| 264 | 0 | _c20160524 | |
| 008 | 201605s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2014.295 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKassner, Ursula | |
| 245 | 0 | 0 |
_aSevere hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cSep 2015 |
||
| 300 |
_a1259-61 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypertriglyceridemia _xblood |
| 650 | 0 | 4 |
_aLipoprotein Lipase _xblood |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aPancreatitis, Chronic _xblood |
| 650 | 0 | 4 | _aProtein Structure, Tertiary |
| 650 | 0 | 4 |
_aReceptors, Lipoprotein _xblood |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 650 | 0 | 4 |
_aTriglycerides _xblood |
| 700 | 1 | _aSalewsky, Bastian | |
| 700 | 1 | _aWühle-Demuth, Marion | |
| 700 | 1 | _aSzijarto, Istvan Andras | |
| 700 | 1 | _aGrenkowitz, Thomas | |
| 700 | 1 | _aBinner, Priska | |
| 700 | 1 | _aMärz, Winfried | |
| 700 | 1 | _aSteinhagen-Thiessen, Elisabeth | |
| 700 | 1 | _aDemuth, Ilja | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 23 _gno. 9 _gp. 1259-61 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2014.295 _zAvailable from publisher's website |
| 999 |
_c24531034 _d24531034 |
||