TY  - GEN
AU  - Hartmann,H
AU  - Herchenbach,J
AU  - Stephani,U
AU  - Ledaal,P
AU  - Donnerstag,F
AU  - Lücke,T
AU  - Das,A M
AU  - Christen,H J
AU  - Hagedorn,M
AU  - Meins,M
TI  - 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
SN  - 0174-304X
PY  - 2008///0214
KW  - Age of Onset
KW  - Alanine
KW  - genetics
KW  - Alexander Disease
KW  - Cysteine
KW  - DNA Mutational Analysis
KW  - methods
KW  - Exons
KW  - Female
KW  - Frontal Lobe
KW  - pathology
KW  - Glial Fibrillary Acidic Protein
KW  - Humans
KW  - Infant
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation
KW  - Protein Structure, Tertiary
KW  - Tyrosine
KW  - Valine
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1055/s-2007-985902
ER  -