| 000 | 01506 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250512014640.0 | ||
| 264 | 0 | _c19890712 | |
| 008 | 198907s 0 0 eng d | ||
| 022 | _a0027-8424 | ||
| 024 | 7 |
_a10.1073/pnas.86.11.4166 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSoutar, A K | |
| 245 | 0 | 0 |
_aIdentification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. _h[electronic resource] |
| 260 |
_bProceedings of the National Academy of Sciences of the United States of America _cJun 1989 |
||
| 300 |
_a4166-70 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Amplification |
| 650 | 0 | 4 | _aGenes |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperlipoproteinemia Type II _xgenetics |
| 650 | 0 | 4 | _aLigands |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aReceptors, LDL _xgenetics |
| 650 | 0 | 4 | _aReference Values |
| 700 | 1 | _aKnight, B L | |
| 700 | 1 | _aPatel, D D | |
| 773 | 0 |
_tProceedings of the National Academy of Sciences of the United States of America _gvol. 86 _gno. 11 _gp. 4166-70 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1073/pnas.86.11.4166 _zAvailable from publisher's website |
| 999 |
_c2732645 _d2732645 |
||