TY  - GEN
AU  - Traoré,M
AU  - Landouré,G
AU  - Motley,W
AU  - Sangaré,M
AU  - Meilleur,K
AU  - Coulibaly,S
AU  - Traoré,S
AU  - Niaré,B
AU  - Mochel,F
AU  - La Pean,A
AU  - Vortmeyer,A
AU  - Mani,H
AU  - Fischbeck,K H
TI  - Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease
SN  - 1364-6753
PY  - 2009///1207
KW  - Adolescent
KW  - Brain
KW  - pathology
KW  - Carrier Proteins
KW  - genetics
KW  - Child
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Female
KW  - Humans
KW  - Lafora Disease
KW  - Male
KW  - Mali
KW  - Mutation, Missense
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Ubiquitin-Protein Ligases
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10048-009-0190-4
ER  -