000 | 01080 a2200277 4500 | ||
---|---|---|---|
005 | 20250516221123.0 | ||
264 | 0 | _c20150806 | |
008 | 201508s 0 0 eng d | ||
022 | _a1476-5438 | ||
024 | 7 |
_a10.1038/ejhg.2014.99 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBrenner, Michael | |
245 | 0 | 0 |
_aA new mutation in GFAP widens the spectrum of Alexander disease. _h[electronic resource] |
260 |
_bEuropean journal of human genetics : EJHG _cJan 2015 |
||
300 |
_a1-2 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Comment | ||
650 | 0 | 4 |
_aAlexander Disease _xdiagnosis |
650 | 0 | 4 | _aCodon, Nonsense |
650 | 0 | 4 |
_aGlial Fibrillary Acidic Protein _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aProtein Interaction Domains and Motifs _xgenetics |
700 | 1 | _aMessing, Albee | |
773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 23 _gno. 1 _gp. 1-2 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2014.99 _zAvailable from publisher's website |
999 |
_c23949691 _d23949691 |