| pubmed-article:8757036 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8757036 | lifeskim:mentions | umls-concept:C0178443 | lld:lifeskim |
| pubmed-article:8757036 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:8757036 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:8757036 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:8757036 | lifeskim:mentions | umls-concept:C0162330 | lld:lifeskim |
| pubmed-article:8757036 | lifeskim:mentions | umls-concept:C0268274 | lld:lifeskim |
| pubmed-article:8757036 | lifeskim:mentions | umls-concept:C0015295 | lld:lifeskim |
| pubmed-article:8757036 | lifeskim:mentions | umls-concept:C1414557 | lld:lifeskim |
| pubmed-article:8757036 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:8757036 | pubmed:dateCreated | 1996-11-26 | lld:pubmed |
| pubmed-article:8757036 | pubmed:abstractText | Late-onset GM2 gangliosidosis is a variant form of Tay-Sachs disease characterized by onset of symptoms and signs in adolescence or in early adult life. The deficiency of beta-hexosaminidase A (Hex A) in this form of GM2 gangliosidosis has been invariably associated with the presence of the Gly269-->Ser substitution in the alpha-chain. We found two siblings of Ashkenazi Jewish descent diagnosed with late-onset GM2 gangliosidosis who were negative for the Gly269-->Ser mutation. Analysis of the HEXA gene showed that they were compound heterozygotes for the functionally silent 4-bp insertion in exon 11, typical of the infantile form of the disease and for a novel mutation, T538-->C, resulting in the missense Tyr180-->His. Expression studies in COS-7 cells suggested that the effect of this mutation was to decrease the stability of the alpha-chain at physiologic temperatures and therefore to indirectly affect the formation of mature Hex A. | lld:pubmed |
| pubmed-article:8757036 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8757036 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8757036 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:8757036 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8757036 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8757036 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:8757036 | pubmed:issn | 0028-3878 | lld:pubmed |
| pubmed-article:8757036 | pubmed:author | pubmed-author:KolodnyE HEH | lld:pubmed |
| pubmed-article:8757036 | pubmed:author | pubmed-author:RaghavanSS | lld:pubmed |
| pubmed-article:8757036 | pubmed:author | pubmed-author:ZelnikNN | lld:pubmed |
| pubmed-article:8757036 | pubmed:author | pubmed-author:De GasperiRR | lld:pubmed |
| pubmed-article:8757036 | pubmed:author | pubmed-author:Gama SosaM... | lld:pubmed |
| pubmed-article:8757036 | pubmed:author | pubmed-author:BattistiniSS | lld:pubmed |
| pubmed-article:8757036 | pubmed:author | pubmed-author:LeshinskyEE | lld:pubmed |
| pubmed-article:8757036 | pubmed:author | pubmed-author:YeretsianJJ | lld:pubmed |
| pubmed-article:8757036 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8757036 | pubmed:volume | 47 | lld:pubmed |
| pubmed-article:8757036 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8757036 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8757036 | pubmed:pagination | 547-52 | lld:pubmed |
| pubmed-article:8757036 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:8757036 | pubmed:meshHeading | pubmed-meshheading:8757036-... | lld:pubmed |
| pubmed-article:8757036 | pubmed:meshHeading | pubmed-meshheading:8757036-... | lld:pubmed |
| pubmed-article:8757036 | pubmed:meshHeading | pubmed-meshheading:8757036-... | lld:pubmed |
| pubmed-article:8757036 | pubmed:meshHeading | pubmed-meshheading:8757036-... | lld:pubmed |
| pubmed-article:8757036 | pubmed:meshHeading | pubmed-meshheading:8757036-... | lld:pubmed |
| pubmed-article:8757036 | pubmed:meshHeading | pubmed-meshheading:8757036-... | lld:pubmed |
| pubmed-article:8757036 | pubmed:meshHeading | pubmed-meshheading:8757036-... | lld:pubmed |
| pubmed-article:8757036 | pubmed:meshHeading | pubmed-meshheading:8757036-... | lld:pubmed |
| pubmed-article:8757036 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8757036 | pubmed:articleTitle | Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene. | lld:pubmed |
| pubmed-article:8757036 | pubmed:affiliation | Department of Neurology, New York University School of Medicine, NY 10016, USA. | lld:pubmed |
| pubmed-article:8757036 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8757036 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:3073 | entrezgene:pubmed | pubmed-article:8757036 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8757036 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8757036 | lld:pubmed |
