| 000 | 01518 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250514193355.0 | ||
| 264 | 0 | _c20041025 | |
| 008 | 200410s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.9264 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMozas, Pilar | |
| 245 | 0 | 0 |
_aMolecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. _h[electronic resource] |
| 260 |
_bHuman mutation _cAug 2004 |
||
| 300 |
_a187 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 |
_aFrameshift Mutation _xgenetics |
| 650 | 0 | 4 |
_aGenetic Carrier Screening _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperlipoproteinemia Type II _xgenetics |
| 650 | 0 | 4 |
_aIntrons _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aReceptors, LDL _xgenetics |
| 650 | 0 | 4 |
_aSpain _xepidemiology |
| 700 | 1 | _aCastillo, Sergio | |
| 700 | 1 | _aTejedor, Diego | |
| 700 | 1 | _aReyes, Gilberto | |
| 700 | 1 | _aAlonso, Rodrigo | |
| 700 | 1 | _aFranco, Miguel | |
| 700 | 1 | _aSaenz, Pedro | |
| 700 | 1 | _aFuentes, Francisco | |
| 700 | 1 | _aAlmagro, Fátima | |
| 700 | 1 | _aMata, Pedro | |
| 700 | 1 | _aPocoví, Miguel | |
| 773 | 0 |
_tHuman mutation _gvol. 24 _gno. 2 _gp. 187 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9264 _zAvailable from publisher's website |
| 999 |
_c14945178 _d14945178 |
||