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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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