Traoré, M

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