[CITATION][C] Isolation of a novel gene underlying Batten disease, CLN3
L TJ - Cell, 1995 - cir.nii.ac.jp
Isolation of a novel gene underlying Batten disease, CLN3
TJ Lerner, RMN Boustany, JW Anderson, KL D'Arigo… - Cell, 1995 - Elsevier
Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively
inherited neurodegenerative disorder of childhood characterized by progressiveloss of
vision, seizures, and psychomotor disturbances. The Batten disease gene, CLN3, maps to
chromosome 16p12. 1. The so-called 56 chromosome haplotype defined by alleles at the
D16S299 and D16S298 loci is shared by 73% of Batten disease chromosomes. Exon
amplification of a cosmid containing D16S298 has yielded a candidate gene that is …
inherited neurodegenerative disorder of childhood characterized by progressiveloss of
vision, seizures, and psychomotor disturbances. The Batten disease gene, CLN3, maps to
chromosome 16p12. 1. The so-called 56 chromosome haplotype defined by alleles at the
D16S299 and D16S298 loci is shared by 73% of Batten disease chromosomes. Exon
amplification of a cosmid containing D16S298 has yielded a candidate gene that is …