TY  - GEN
AU  - Stogmann,E
AU  - El Tawil,S
AU  - Wagenstaller,J
AU  - Gaber,A
AU  - Edris,S
AU  - Abdelhady,A
AU  - Assem-Hilger,E
AU  - Leutmezer,F
AU  - Bonelli,S
AU  - Baumgartner,C
AU  - Zimprich,F
AU  - Strom,T M
AU  - Zimprich,A
TI  - A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis
SN  - 1364-6753
PY  - 2009///0713
KW  - Adolescent
KW  - Base Sequence
KW  - Child
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Egypt
KW  - Female
KW  - Genetic Linkage
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Membrane Transport Proteins
KW  - genetics
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Neuronal Ceroid-Lipofuscinoses
KW  - Pedigree
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1007/s10048-008-0153-1
ER  -