000 | 01293 a2200373 4500 | ||
---|---|---|---|
005 | 20250518030601.0 | ||
264 | 0 | _c20200525 | |
008 | 202005s 0 0 eng d | ||
022 | _a1933-2874 | ||
024 | 7 |
_a10.1016/j.jacl.2019.02.003 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aVaverkova, Helena | |
245 | 0 | 0 |
_aA case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene. _h[electronic resource] |
260 |
_bJournal of clinical lipidology _c |
||
300 |
_a405-410 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aAdaptor Proteins, Signal Transducing _xgenetics |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAged |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Variation |
650 | 0 | 4 | _aHeterozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aHypercholesterolemia _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aHyperlipoproteinemia Type III |
700 | 1 | _aTichy, Lukas | |
700 | 1 | _aKarasek, David | |
700 | 1 | _aFreiberger, Tomas | |
773 | 0 |
_tJournal of clinical lipidology _gvol. 13 _gno. 3 _gp. 405-410 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.jacl.2019.02.003 _zAvailable from publisher's website |
999 |
_c29482784 _d29482784 |