| pubmed-article:1415223 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1415223 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:1415223 | lifeskim:mentions | umls-concept:C0035696 | lld:lifeskim |
| pubmed-article:1415223 | lifeskim:mentions | umls-concept:C0017205 | lld:lifeskim |
| pubmed-article:1415223 | lifeskim:mentions | umls-concept:C0017768 | lld:lifeskim |
| pubmed-article:1415223 | lifeskim:mentions | umls-concept:C0015295 | lld:lifeskim |
| pubmed-article:1415223 | lifeskim:mentions | umls-concept:C0678227 | lld:lifeskim |
| pubmed-article:1415223 | lifeskim:mentions | umls-concept:C0887917 | lld:lifeskim |
| pubmed-article:1415223 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:1415223 | pubmed:dateCreated | 1992-10-28 | lld:pubmed |
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| pubmed-article:1415223 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1415223 | pubmed:abstractText | Gaucher disease is the most frequent lysosomal storage disease and the most prevalent Jewish genetic disease. About 30 identified missense mutations are causal to the defective activity of acid beta-glucosidase in this disease. cDNAs were characterized from a moderately affected 9-year-old Ashkenazi Jewish Gaucher disease type 1 patient whose 80-year-old, enzyme-deficient, 1226G (Asn370----Ser [N370S]) homozygous grandfather was nearly asymptomatic. Sequence analyses revealed four populations of cDNAs with either the 1226G mutation, an exact exon 2 (delta EX2) deletion, a deletion of exon 2 and the first 115 bp of exon 3 (delta EX2-3), or a completely normal sequence. About 50% of the cDNAs were the delta EX2, the delta EX2-3, and the normal cDNAs, in a ratio of 6:3:1. Specific amplification and characterization of exon 2 and 5' and 3' intronic flanking sequences from the structural gene demonstrated clones with either the normal sequence or with a G+1----A+1 transition at the exon 2/intron 2 boundary. This mutation destroyed the splice donor consensus site (U1 binding site) for mRNA processing. This transition also was present at the corresponding exon/intron boundary of the highly homologous pseudogene. This new mutation, termed "IVS2 G+1----A+1," is the first splicing mutation described in Gaucher disease and accounted for about 3.4% of the Gaucher disease alleles in the Ashkenazi Jewish population. The occurrence of this "pseudogene"-type mutation in the structural gene indicates the role of acid beta-glucosidase pseudogene and structural gene rearrangements in the pathogenesis of this disease. | lld:pubmed |
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| pubmed-article:1415223 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:1415223 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:1415223 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1415223 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:1415223 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:1415223 | pubmed:author | pubmed-author:GrabowskiG... | lld:pubmed |
| pubmed-article:1415223 | pubmed:author | pubmed-author:HeG SGS | lld:pubmed |
| pubmed-article:1415223 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1415223 | pubmed:volume | 51 | lld:pubmed |
| pubmed-article:1415223 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1415223 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1415223 | pubmed:pagination | 810-20 | lld:pubmed |
| pubmed-article:1415223 | pubmed:dateRevised | 2010-9-7 | lld:pubmed |
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| pubmed-article:1415223 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1415223 | pubmed:articleTitle | Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA. | lld:pubmed |
| pubmed-article:1415223 | pubmed:affiliation | Department of Pediatrics, Mount Sinai School of Medicine, New York. | lld:pubmed |
| pubmed-article:1415223 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1415223 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1415223 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:1415223 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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