| pubmed-article:7553855 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7553855 | lifeskim:mentions | umls-concept:C1513822 | lld:lifeskim |
| pubmed-article:7553855 | lifeskim:mentions | umls-concept:C1880171 | lld:lifeskim |
| pubmed-article:7553855 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:7553855 | lifeskim:mentions | umls-concept:C0204727 | lld:lifeskim |
| pubmed-article:7553855 | lifeskim:mentions | umls-concept:C0205409 | lld:lifeskim |
| pubmed-article:7553855 | lifeskim:mentions | umls-concept:C0751383 | lld:lifeskim |
| pubmed-article:7553855 | lifeskim:mentions | umls-concept:C1413495 | lld:lifeskim |
| pubmed-article:7553855 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:7553855 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:7553855 | lifeskim:mentions | umls-concept:C1512888 | lld:lifeskim |
| pubmed-article:7553855 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:7553855 | pubmed:dateCreated | 1995-10-27 | lld:pubmed |
| pubmed-article:7553855 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7553855 | pubmed:abstractText | Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively inherited neurodegenerative disorder of childhood characterized by progressive loss 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. | lld:pubmed |
| pubmed-article:7553855 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7553855 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7553855 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7553855 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7553855 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7553855 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7553855 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:7553855 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7553855 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7553855 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:7553855 | pubmed:issn | 0092-8674 | lld:pubmed |
| pubmed-article:7553855 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7553855 | pubmed:day | 22 | lld:pubmed |
| pubmed-article:7553855 | pubmed:volume | 82 | lld:pubmed |
| pubmed-article:7553855 | pubmed:geneSymbol | CLN3 | lld:pubmed |
| pubmed-article:7553855 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7553855 | pubmed:pagination | 949-57 | lld:pubmed |
| pubmed-article:7553855 | pubmed:dateRevised | 2010-8-25 | lld:pubmed |
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| pubmed-article:7553855 | pubmed:year | 1995 | lld:pubmed |
| pubmed-article:7553855 | pubmed:articleTitle | Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. | lld:pubmed |
| pubmed-article:7553855 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7553855 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:7553855 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
| pubmed-article:7553855 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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