| 000 | 01569 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250515193309.0 | ||
| 264 | 0 | _c20100308 | |
| 008 | 201003s 0 0 eng d | ||
| 022 | _a1873-2364 | ||
| 024 | 7 |
_a10.1016/j.nmd.2009.09.010 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFoley, A Reghan | |
| 245 | 0 | 0 |
_aAutosomal recessive inheritance of classic Bethlem myopathy. _h[electronic resource] |
| 260 |
_bNeuromuscular disorders : NMD _cDec 2009 |
||
| 300 |
_a813-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aCollagen Type VI _xgenetics |
| 650 | 0 | 4 |
_aDermis _xmetabolism |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMuscular Diseases _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 700 | 1 | _aHu, Ying | |
| 700 | 1 | _aZou, Yaqun | |
| 700 | 1 | _aColumbus, Alexandra | |
| 700 | 1 | _aShoffner, John | |
| 700 | 1 | _aDunn, Diane M | |
| 700 | 1 | _aWeiss, Robert B | |
| 700 | 1 | _aBönnemann, Carsten G | |
| 773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 19 _gno. 12 _gp. 813-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2009.09.010 _zAvailable from publisher's website |
| 999 |
_c19272470 _d19272470 |
||