Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.

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Title: Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
Authors: Flint D; Department of Neurobiology and the Civitan International Research Center, Center for Glial Biology in Medicine, Evelyn F. McKnight Brain Institute, University of Alabama at Birmingham, AL 35294, USA., Li R, Webster LS, Naidu S, Kolodny E, Percy A, van der Knaap M, Powers JM, Mantovani JF, Ekstein J, Goldman JE, Messing A, Brenner M
Source: Human mutation [Hum Mutat] 2012 Jul; Vol. 33 (7), pp. 1141-8. Date of Electronic Publication: 2012 Apr 30.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
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  Data: <searchLink fieldCode="AU" term="%22Flint+D%22">Flint D</searchLink>; Department of Neurobiology and the Civitan International Research Center, Center for Glial Biology in Medicine, Evelyn F. McKnight Brain Institute, University of Alabama at Birmingham, AL 35294, USA.<br /><searchLink fieldCode="AU" term="%22Li+R%22">Li R</searchLink><br /><searchLink fieldCode="AU" term="%22Webster+LS%22">Webster LS</searchLink><br /><searchLink fieldCode="AU" term="%22Naidu+S%22">Naidu S</searchLink><br /><searchLink fieldCode="AU" term="%22Kolodny+E%22">Kolodny E</searchLink><br /><searchLink fieldCode="AU" term="%22Percy+A%22">Percy A</searchLink><br /><searchLink fieldCode="AU" term="%22van+der+Knaap+M%22">van der Knaap M</searchLink><br /><searchLink fieldCode="AU" term="%22Powers+JM%22">Powers JM</searchLink><br /><searchLink fieldCode="AU" term="%22Mantovani+JF%22">Mantovani JF</searchLink><br /><searchLink fieldCode="AU" term="%22Ekstein+J%22">Ekstein J</searchLink><br /><searchLink fieldCode="AU" term="%22Goldman+JE%22">Goldman JE</searchLink><br /><searchLink fieldCode="AU" term="%22Messing+A%22">Messing A</searchLink><br /><searchLink fieldCode="AU" term="%22Brenner+M%22">Brenner M</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2012 Jul; Vol. 33 (7), pp. 1141-8. <i>Date of Electronic Publication: </i>2012 Apr 30.
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        Value: 10.1002/humu.22094
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              Text: 2012 Jul
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