| 000 | 01529 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250515025344.0 | ||
| 264 | 0 | _c20061010 | |
| 008 | 200610s 0 0 eng d | ||
| 022 | _a0960-8966 | ||
| 024 | 7 |
_a10.1016/j.nmd.2006.03.016 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMercuri, E | |
| 245 | 0 | 0 |
_aPOMT2 mutation in a patient with 'MEB-like' phenotype. _h[electronic resource] |
| 260 |
_bNeuromuscular disorders : NMD _cJul 2006 |
||
| 300 |
_a446-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aHypertrophy |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 |
_aMannosyltransferases _xgenetics |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xpathology |
| 650 | 0 | 4 |
_aMuscular Dystrophies _xcongenital |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPoint Mutation |
| 700 | 1 | _aD'Amico, A | |
| 700 | 1 | _aTessa, A | |
| 700 | 1 | _aBerardinelli, A | |
| 700 | 1 | _aPane, M | |
| 700 | 1 | _aMessina, S | |
| 700 | 1 | _avan Reeuwijk, J | |
| 700 | 1 | _aBertini, E | |
| 700 | 1 | _aMuntoni, F | |
| 700 | 1 | _aSantorelli, F M | |
| 773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 16 _gno. 7 _gp. 446-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2006.03.016 _zAvailable from publisher's website |
| 999 |
_c16301736 _d16301736 |
||