| 000 | 01556 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250516065040.0 | ||
| 264 | 0 | _c20120723 | |
| 008 | 201207s 0 0 eng d | ||
| 022 | _a1096-7206 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2011.10.019 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPérez, Belén | |
| 245 | 0 | 0 |
_aSegmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cFeb 2012 |
||
| 300 |
_a270-1 p. _bdigital |
||
| 500 | _aPublication Type: Letter; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChromosome Aberrations |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xdiagnosis |
| 650 | 0 | 4 |
_aGenes, Recessive _xgenetics |
| 650 | 0 | 4 |
_aHomocystinuria _xdiagnosis |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMicrosatellite Repeats _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPathology, Molecular _xmethods |
| 650 | 0 | 4 |
_aPhosphotransferases (Phosphomutases) _xdeficiency |
| 650 | 0 | 4 |
_aPropionic Acidemia _xdiagnosis |
| 650 | 0 | 4 |
_aUniparental Disomy _xdiagnosis |
| 700 | 1 | _aNevado, Julián | |
| 700 | 1 | _aLapunzina, Pablo | |
| 700 | 1 | _aGallego, Lorena | |
| 700 | 1 | _aPérez-Cerdá, Celia | |
| 700 | 1 | _aMerinero, Begoña | |
| 700 | 1 | _aUgarte, Magdalena | |
| 700 | 1 | _aDesviat, Lourdes R | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 105 _gno. 2 _gp. 270-1 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2011.10.019 _zAvailable from publisher's website |
| 999 |
_c21342160 _d21342160 |
||