Subject(s)

Codon/genetics , Membrane Proteins/genetics , Mutation , Neuronal Ceroid-Lipofuscinoses/genetics , Adolescent , Argentina , Biopsy , Codon, Terminator , Exons , Female , Frameshift Mutation , Heterozygote , Humans , Male , Neuronal Ceroid-Lipofuscinoses/ethnology , Phenotype

Subject(s)

Amino Acid Substitution , Codon/genetics , Membrane Proteins/genetics , Mutation, Missense , Neuronal Ceroid-Lipofuscinoses/genetics , Adolescent , Argentina , Biopsy , Exons , Female , Heterozygote , Humans , Male , Neuronal Ceroid-Lipofuscinoses/ethnology , Phenotype , Point Mutation