Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. [electronic resource]
- Neurogenetics Oct 2009
- 319-23 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
1364-6753
10.1007/s10048-009-0190-4 doi
Adolescent Brain--pathology Carrier Proteins--genetics Child Consanguinity DNA Mutational Analysis Female Humans Lafora Disease--genetics Male Mali Mutation, Missense Pedigree Polymorphism, Single Nucleotide Ubiquitin-Protein Ligases Young Adult