| pubmed-article:8023850 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8023850 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:8023850 | lifeskim:mentions | umls-concept:C0178443 | lld:lifeskim |
| pubmed-article:8023850 | lifeskim:mentions | umls-concept:C0206307 | lld:lifeskim |
| pubmed-article:8023850 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:8023850 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:8023850 | pubmed:dateCreated | 1994-7-29 | lld:pubmed |
| pubmed-article:8023850 | pubmed:abstractText | Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase (ASPA). Sixty-four probands were analyzed for mutations in the ASPA gene. Three point mutations--693C-->A, 854A-->C, and 914C-->A--were identified in the coding sequence. The 693C-->A and 914C-->A base changes, resulting in nonsense tyr231-->ter and missense ala305-->glu mutations, respectively, lead to complete loss of ASPA activity in in vitro expression studies. The 854A-->C transversion converted glu to ala in codon 285. The glu285-->ala mutant ASPA has 2.5% of the activity expressed by the wild-type enzyme. A fourth mutation, 433 --2(A-->G) transition, was identified at the splice-acceptor site in intron 2. The splice-site mutation would lead to skipping of exon 3, accompanied by a frameshift, and thus would produce aberrant ASPA. Of the 128 unrelated Canavan chromosomes analyzed, 88 were from probands of Ashkenazi Jewish descent. The glu285-->ala mutation was predominant (82.9%) in this population, followed by the tyr231-->ter (14.8%) and 433 --2(A-->G) (1.1%) mutations. The three mutations account for 98.8% of the Canavan chromosomes of Ashkenazi Jewish origin. The ala305-->glu mutation was found exclusively in non-Jewish probands of European descent and constituted 60% of the 40 mutant chromosomes. Predominant occurrence of certain mutations among Ashkenazi Jewish and non-Jewish patients with Canavan disease would suggest a founding-father effect in propagation of these mutant chromosomes. | lld:pubmed |
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| pubmed-article:8023850 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8023850 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8023850 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:8023850 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8023850 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:8023850 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:8023850 | pubmed:author | pubmed-author:MatalonRR | lld:pubmed |
| pubmed-article:8023850 | pubmed:author | pubmed-author:MichalsKK | lld:pubmed |
| pubmed-article:8023850 | pubmed:author | pubmed-author:Kan?HH | lld:pubmed |
| pubmed-article:8023850 | pubmed:author | pubmed-author:ZisV PVP | lld:pubmed |
| pubmed-article:8023850 | pubmed:author | pubmed-author:BalamuruganKK | lld:pubmed |
| pubmed-article:8023850 | pubmed:author | pubmed-author:PetroskyAA | lld:pubmed |
| pubmed-article:8023850 | pubmed:author | pubmed-author:AloyaMM | lld:pubmed |
| pubmed-article:8023850 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8023850 | pubmed:volume | 55 | lld:pubmed |
| pubmed-article:8023850 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8023850 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8023850 | pubmed:pagination | 34-41 | lld:pubmed |
| pubmed-article:8023850 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:8023850 | pubmed:meshHeading | pubmed-meshheading:8023850-... | lld:pubmed |
| pubmed-article:8023850 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:8023850 | pubmed:articleTitle | Canavan disease: mutations among Jewish and non-Jewish patients. | lld:pubmed |
| pubmed-article:8023850 | pubmed:affiliation | Research Institute, Miami Children's Hospital, FL 33155. | lld:pubmed |
| pubmed-article:8023850 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8023850 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:443 | entrezgene:pubmed | pubmed-article:8023850 | lld:entrezgene |
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