Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7104
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Type: Journal article
Title: Isolation of a novel gene underlying Batten disease, CLN3
Author: Lerner, Terry J.
Boustany, Rose-Mary N.
Anderson, John W.
D'Arigo, Kenneth L.
Schlumpf, Karen
Buckler, Alan J.
Gusella, James F.
Haines, Jonathan L.
Citation: Cell, 1995; 82:949-957
Publisher: MIT Press
Issue Date: 1995
ISSN: 0092-8674
Abstract: 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 disrupted by a 1 kb genomic deletion in all patients carrying the 56 chromosome. Two separate deletions and a point mutation altering a splice site in three unrelated families have confirmed the candidate as the CLN3 gene. The disease gene encodes a novel 438 amino acid protein of unknown function.
Description: Copyright © 2009 Elsevier B.V. All rights reserved.
DOI: 10.1016/0092-8674(95)90274-0
Description (link): http://www.sciencedirect.com/science/journal/00928674
Appears in Collections:Paediatrics publications

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