| 000 | 01511 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250516155818.0 | ||
| 264 | 0 | _c20130826 | |
| 008 | 201308s 0 0 eng d | ||
| 022 | _a1471-2350 | ||
| 024 | 7 |
_a10.1186/1471-2350-14-68 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMcLaughlin, Heather M | |
| 245 | 0 | 0 |
_aCompound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. _h[electronic resource] |
| 260 |
_bBMC medical genetics _cJul 2013 |
||
| 300 |
_a68 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCardiomyopathies _xgenetics |
| 650 | 0 | 4 |
_aCardiomyopathy, Dilated _xgenetics |
| 650 | 0 | 4 |
_aDesmin _xgenetics |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscular Dystrophies _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aKelly, Melissa A | |
| 700 | 1 | _aHawley, Pamela P | |
| 700 | 1 | _aDarras, Basil T | |
| 700 | 1 | _aFunke, Birgit | |
| 700 | 1 | _aPicker, Jonathan | |
| 773 | 0 |
_tBMC medical genetics _gvol. 14 _gp. 68 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/1471-2350-14-68 _zAvailable from publisher's website |
| 999 |
_c22881123 _d22881123 |
||