| 000 | 01676 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250516030639.0 | ||
| 264 | 0 | _c20110826 | |
| 008 | 201108s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2010.085100 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aParry, Erin M | |
| 245 | 0 | 0 |
_aDecreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cMay 2011 |
||
| 300 |
_a327-33 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aDyskeratosis Congenita _xgenetics |
| 650 | 0 | 4 |
_aGenetic Linkage _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPulmonary Fibrosis _xgenetics |
| 650 | 0 | 4 |
_aRNA _xgenetics |
| 650 | 0 | 4 |
_aRegulatory Elements, Transcriptional _xgenetics |
| 650 | 0 | 4 |
_aTelomerase _xgenetics |
| 650 | 0 | 4 |
_aTelomere _xgenetics |
| 650 | 0 | 4 |
_aX Chromosome Inactivation _xgenetics |
| 700 | 1 | _aAlder, Jonathan K | |
| 700 | 1 | _aLee, Stella S | |
| 700 | 1 | _aPhillips, John A | |
| 700 | 1 | _aLoyd, James E | |
| 700 | 1 | _aDuggal, Priya | |
| 700 | 1 | _aArmanios, Mary | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 48 _gno. 5 _gp. 327-33 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2010.085100 _zAvailable from publisher's website |
| 999 |
_c20685716 _d20685716 |
||