| 000 | 01727 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250514232813.0 | ||
| 264 | 0 | _c20060518 | |
| 008 | 200605s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2004.029504 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBaser, M E | |
| 245 | 0 | 0 |
_aThe location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cJul 2005 |
||
| 300 |
_a540-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Review | ||
| 650 | 0 | 4 |
_aAlternative Splicing _xgenetics |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aDatabases, Genetic |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNeurofibromatosis 2 _xgenetics |
| 650 | 0 | 4 |
_aNeurofibromin 2 _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 650 | 0 | 4 | _aSurvival Analysis |
| 700 | 1 | _aKuramoto, L | |
| 700 | 1 | _aWoods, R | |
| 700 | 1 | _aJoe, H | |
| 700 | 1 | _aFriedman, J M | |
| 700 | 1 | _aWallace, A J | |
| 700 | 1 | _aRamsden, R T | |
| 700 | 1 | _aOlschwang, S | |
| 700 | 1 | _aBijlsma, E | |
| 700 | 1 | _aKalamarides, M | |
| 700 | 1 | _aPapi, L | |
| 700 | 1 | _aKato, R | |
| 700 | 1 | _aCarroll, J | |
| 700 | 1 | _aLázaro, C | |
| 700 | 1 | _aJoncourt, F | |
| 700 | 1 | _aParry, D M | |
| 700 | 1 | _aRouleau, G A | |
| 700 | 1 | _aEvans, D G R | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 42 _gno. 7 _gp. 540-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2004.029504 _zAvailable from publisher's website |
| 999 |
_c15651722 _d15651722 |
||