000 | 01533 a2200493 4500 | ||
---|---|---|---|
005 | 20250515135004.0 | ||
264 | 0 | _c20090204 | |
008 | 200902s 0 0 eng d | ||
022 | _a1399-0004 | ||
024 | 7 |
_a10.1111/j.1399-0004.2008.01069.x _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aSilvain, M | |
245 | 0 | 0 |
_aAnderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. _h[electronic resource] |
260 |
_bClinical genetics _cDec 2008 |
||
300 |
_a546-52 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aHeart Defects, Congenital _xetiology |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aMalabsorption Syndromes _xcomplications |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMonomeric GTP-Binding Proteins _xgenetics |
650 | 0 | 4 |
_aMuscles _xabnormalities |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aYoung Adult |
700 | 1 | _aBligny, D | |
700 | 1 | _aAparicio, T | |
700 | 1 | _aLaforêt, P | |
700 | 1 | _aGrodet, A | |
700 | 1 | _aPeretti, N | |
700 | 1 | _aMénard, D | |
700 | 1 | _aDjouadi, F | |
700 | 1 | _aJardel, C | |
700 | 1 | _aBégué, J M | |
700 | 1 | _aWalker, F | |
700 | 1 | _aSchmitz, J | |
700 | 1 | _aLachaux, A | |
700 | 1 | _aAggerbeck, L P | |
700 | 1 | _aSamson-Bouma, M E | |
773 | 0 |
_tClinical genetics _gvol. 74 _gno. 6 _gp. 546-52 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.2008.01069.x _zAvailable from publisher's website |
999 |
_c18254955 _d18254955 |