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Nature Genetics  27, 117 - 120 (2001)
doi:10.1038/83679

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

Michael Brenner, Anne B. Johnson, Odile Boespflug-Tanguy, Diana Rodriguez, James E. Goldman & Albee Messing
 
Figure 1 thumbnailFigure 1.
GFAP mutations in Alexander disease patients characterized by DNA sequencing.

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 Figure 2 thumbnailFigure 2.
Detection of mutations by restriction endonuclease digestion.

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Figure 3 thumbnailFigure 3.
Location of mutations in GFAP associated with Alexander disease in relation to protein domain structure of intermediate filaments.

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 Table 1 thumbnailTable 1.
Characteristics of patients with Alexander disease and associated GFAP mutations

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