| 000 | 01545 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250513063518.0 | ||
| 264 | 0 | _c19940602 | |
| 008 | 199406s 0 0 eng d | ||
| 022 | _a0340-6717 | ||
| 024 | 7 |
_a10.1007/BF00202819 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLelli, N | |
| 245 | 0 | 0 |
_aA new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste). _h[electronic resource] |
| 260 |
_bHuman genetics _cMay 1994 |
||
| 300 |
_a538-40 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aBlotting, Southern |
| 650 | 0 | 4 | _aCysteine |
| 650 | 0 | 4 |
_aDNA _xanalysis |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperlipoproteinemia Type II _xgenetics |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aPhenylalanine |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aReceptors, LDL _xgenetics |
| 700 | 1 | _aGaruti, R | |
| 700 | 1 | _aPedrazzi, P | |
| 700 | 1 | _aGhisellini, M | |
| 700 | 1 | _aSimone, M L | |
| 700 | 1 | _aTiozzo, R | |
| 700 | 1 | _aCattin, L | |
| 700 | 1 | _aValenti, M | |
| 700 | 1 | _aRolleri, M | |
| 700 | 1 | _aBertolini, S | |
| 773 | 0 |
_tHuman genetics _gvol. 93 _gno. 5 _gp. 538-40 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/BF00202819 _zAvailable from publisher's website |
| 999 |
_c8168148 _d8168148 |
||