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.
Hartmann, H
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] - Neuropediatrics Jun 2007 - 143-7 p. digital
Publication Type: Journal Article
0174-304X
10.1055/s-2007-985902 doi
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
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] - Neuropediatrics Jun 2007 - 143-7 p. digital
Publication Type: Journal Article
0174-304X
10.1055/s-2007-985902 doi
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