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