Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease. [electronic resource]
Producer: 20080214Description: 143-7 p. digitalISSN:- 0174-304X
- Age of Onset
- Alanine -- genetics
- Alexander Disease -- genetics
- Cysteine -- genetics
- DNA Mutational Analysis -- methods
- Exons -- genetics
- Female
- Frontal Lobe -- pathology
- Glial Fibrillary Acidic Protein -- genetics
- Humans
- Infant
- Magnetic Resonance Imaging -- methods
- Male
- Mutation -- genetics
- Protein Structure, Tertiary -- genetics
- Tyrosine -- genetics
- Valine -- genetics
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Publication Type: Journal Article
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