| 000 | 01519 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514195358.0 | ||
| 264 | 0 | _c20050125 | |
| 008 | 200501s 0 0 eng d | ||
| 022 | _a0141-8955 | ||
| 024 | 7 |
_a10.1023/B:BOLI.0000037337.93335.c4 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFrancová, H | |
| 245 | 0 | 0 |
_aNew promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _c2004 |
||
| 300 |
_a523-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aCzech Republic |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperlipoproteinemia Type II _xgenetics |
| 650 | 0 | 4 | _aLiver |
| 650 | 0 | 4 |
_aLuciferases _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPromoter Regions, Genetic |
| 650 | 0 | 4 |
_aReceptors, LDL _xgenetics |
| 650 | 0 | 4 | _aTATA Box |
| 650 | 0 | 4 | _aTransfection |
| 700 | 1 | _aTrbusek, M | |
| 700 | 1 | _aZapletalová, P | |
| 700 | 1 | _aKuhrová, V | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 27 _gno. 4 _gp. 523-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1023/B:BOLI.0000037337.93335.c4 _zAvailable from publisher's website |
| 999 |
_c15002595 _d15002595 |
||