| 000 | 01253 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250513065851.0 | ||
| 264 | 0 | _c19931230 | |
| 008 | 199312s 0 0 eng d | ||
| 022 | _a0964-6906 | ||
| 024 | 7 |
_a10.1093/hmg/2.9.1455 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPepe, G | |
| 245 | 0 | 0 |
_aCorrect usage of a mutated G+1 splice site and transcript quantitation in a lipoprotein lipase-deficient patient. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cSep 1993 |
||
| 300 |
_a1455-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aDNA, Complementary _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLipoprotein Lipase _xdeficiency |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aRNA Splicing |
| 650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
| 650 | 0 | 4 |
_aRNA, Small Nuclear _xgenetics |
| 650 | 0 | 4 | _aTranscription, Genetic |
| 700 | 1 | _aChimienti, G | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 2 _gno. 9 _gp. 1455-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/2.9.1455 _zAvailable from publisher's website |
| 999 |
_c8241352 _d8241352 |
||