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https://hdl.handle.net/2440/7104
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DC Field | Value | Language |
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dc.contributor.author | Lerner, Terry J. | en |
dc.contributor.author | Boustany, Rose-Mary N. | en |
dc.contributor.author | Anderson, John W. | en |
dc.contributor.author | D'Arigo, Kenneth L. | en |
dc.contributor.author | Schlumpf, Karen | en |
dc.contributor.author | Buckler, Alan J. | en |
dc.contributor.author | Gusella, James F. | en |
dc.contributor.author | Haines, Jonathan L. | en |
dc.date.issued | 1995 | en |
dc.identifier.citation | Cell, 1995; 82:949-957 | en |
dc.identifier.issn | 0092-8674 | en |
dc.identifier.uri | http://hdl.handle.net/2440/7104 | - |
dc.description | Copyright © 2009 Elsevier B.V. All rights reserved. | en |
dc.description.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. | en |
dc.description.uri | http://www.sciencedirect.com/science/journal/00928674 | en |
dc.language.iso | en | en |
dc.publisher | MIT Press | en |
dc.title | Isolation of a novel gene underlying Batten disease, CLN3 | en |
dc.type | Journal article | en |
dc.identifier.doi | 10.1016/0092-8674(95)90274-0 | en |
Appears in Collections: | Paediatrics publications |
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