| pubmed-article:1315304 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1315304 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:1315304 | lifeskim:mentions | umls-concept:C0205145 | lld:lifeskim |
| pubmed-article:1315304 | lifeskim:mentions | umls-concept:C0002986 | lld:lifeskim |
| pubmed-article:1315304 | lifeskim:mentions | umls-concept:C0002268 | lld:lifeskim |
| pubmed-article:1315304 | lifeskim:mentions | umls-concept:C0015295 | lld:lifeskim |
| pubmed-article:1315304 | lifeskim:mentions | umls-concept:C0678227 | lld:lifeskim |
| pubmed-article:1315304 | lifeskim:mentions | umls-concept:C1706204 | lld:lifeskim |
| pubmed-article:1315304 | lifeskim:mentions | umls-concept:C1555721 | lld:lifeskim |
| pubmed-article:1315304 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:1315304 | pubmed:dateCreated | 1992-5-29 | lld:pubmed |
| pubmed-article:1315304 | pubmed:abstractText | Fabry disease, an inborn error of glycosphingolipid catabolism, results from lesions in the X-linked gene encoding the human lysosomal hydrolase, alpha-galactosidase A (alpha-D-galactoside galactohydrolase; EC 3.2.1.22). To detect alpha-galactosidase A RNA processing or stability defects causing Fabry disease, Northern hybridization analyses were performed with poly(A)+ RNA isolated from cultured lymphoblasts from unrelated Fabry hemizygotes. Using a riboprobe complimentary to the normal 1.45-kb alpha-galactosidase A mRNA, a single 1.25-kb transcript was identified in three classically affected brothers from a Japanese Fabry family. Densitometric analysis revealed that the 1.25-kb transcripts were present at 50 to 60% of normal amounts. RNase A analysis identified a deletion of about 200 bp that appeared to include the entire 198 bp of exon 6. Amplification and direct sequencing of a genomic region containing exon 6 from an affected hemizygote revealed a g+1 to t transversion in the invariant gt consensus 5'-splice site of intron 6, which resulted in the deletion of the entire exon 6 sequence. This novel splicing lesion causing Fabry disease is the first g+1 to t transversion of a mammalian 5'-splice site that consistently eliminates the preceding exon. | lld:pubmed |
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| pubmed-article:1315304 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1315304 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1315304 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:1315304 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1315304 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:1315304 | pubmed:issn | 0888-7543 | lld:pubmed |
| pubmed-article:1315304 | pubmed:author | pubmed-author:DesnickR JRJ | lld:pubmed |
| pubmed-article:1315304 | pubmed:author | pubmed-author:BishopD FDF | lld:pubmed |
| pubmed-article:1315304 | pubmed:author | pubmed-author:SakurabaHH | lld:pubmed |
| pubmed-article:1315304 | pubmed:author | pubmed-author:GeeA HAH | lld:pubmed |
| pubmed-article:1315304 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1315304 | pubmed:volume | 12 | lld:pubmed |
| pubmed-article:1315304 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1315304 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1315304 | pubmed:pagination | 643-50 | lld:pubmed |
| pubmed-article:1315304 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:1315304 | pubmed:meshHeading | pubmed-meshheading:1315304-... | lld:pubmed |
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| pubmed-article:1315304 | pubmed:meshHeading | pubmed-meshheading:1315304-... | lld:pubmed |
| pubmed-article:1315304 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1315304 | pubmed:articleTitle | Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease. | lld:pubmed |
| pubmed-article:1315304 | pubmed:affiliation | Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029. | lld:pubmed |
| pubmed-article:1315304 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1315304 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1315304 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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