| pubmed-article:10899751 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10899751 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:10899751 | lifeskim:mentions | umls-concept:C0017921 | lld:lifeskim |
| pubmed-article:10899751 | lifeskim:mentions | umls-concept:C0242918 | lld:lifeskim |
| pubmed-article:10899751 | lifeskim:mentions | umls-concept:C0332120 | lld:lifeskim |
| pubmed-article:10899751 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:10899751 | pubmed:dateCreated | 2000-9-26 | lld:pubmed |
| pubmed-article:10899751 | pubmed:abstractText | Glycogen storage disease type II (GSD II) is an autosomal recessive inherited disorder due to the deficiency of the enzyme acid alpha-glucosidase, which causes an accumulation of glycogen in lysosomes. The deletion of exon 18 (delta 18) is a frequent mutation associated with a severe phenotype. We analyzed 25 Italian patients, 5 of whom were found to be delta 18 carriers. All these 5 patients came from Catania, a town in Sicily. We report on the analysis of 5 intragenic single-point polymorphic markers in the delta 18 patients and on the subsequent characterization of a delta 18-associated haplotype. The frequency of this haplotype in GSD II patients and normal individuals was 1 and 0.196, respectively (chi(2) = 20.9; p < 0.001). The high frequency of the delta 18 allele in this Italian subpopulation is likely to be due to a founder effect. | lld:pubmed |
| pubmed-article:10899751 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10899751 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10899751 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10899751 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10899751 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10899751 | pubmed:issn | 0001-5652 | lld:pubmed |
| pubmed-article:10899751 | pubmed:author | pubmed-author:FilocamoMM | lld:pubmed |
| pubmed-article:10899751 | pubmed:author | pubmed-author:DagninoFF | lld:pubmed |
| pubmed-article:10899751 | pubmed:author | pubmed-author:StroppianoMM | lld:pubmed |
| pubmed-article:10899751 | pubmed:author | pubmed-author:RegisSS | lld:pubmed |
| pubmed-article:10899751 | pubmed:author | pubmed-author:BonuccelliGG | lld:pubmed |
| pubmed-article:10899751 | pubmed:copyrightInfo | Copyright 2000 S. Karger AG, Basel | lld:pubmed |
| pubmed-article:10899751 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10899751 | pubmed:volume | 50 | lld:pubmed |
| pubmed-article:10899751 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10899751 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10899751 | pubmed:pagination | 331-3 | lld:pubmed |
| pubmed-article:10899751 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:10899751 | pubmed:meshHeading | pubmed-meshheading:10899751... | lld:pubmed |
| pubmed-article:10899751 | pubmed:meshHeading | pubmed-meshheading:10899751... | lld:pubmed |
| pubmed-article:10899751 | pubmed:meshHeading | pubmed-meshheading:10899751... | lld:pubmed |
| pubmed-article:10899751 | pubmed:meshHeading | pubmed-meshheading:10899751... | lld:pubmed |
| pubmed-article:10899751 | pubmed:meshHeading | pubmed-meshheading:10899751... | lld:pubmed |
| pubmed-article:10899751 | pubmed:meshHeading | pubmed-meshheading:10899751... | lld:pubmed |
| pubmed-article:10899751 | pubmed:meshHeading | pubmed-meshheading:10899751... | lld:pubmed |
| pubmed-article:10899751 | pubmed:meshHeading | pubmed-meshheading:10899751... | lld:pubmed |
| pubmed-article:10899751 | pubmed:meshHeading | pubmed-meshheading:10899751... | lld:pubmed |
| pubmed-article:10899751 | pubmed:meshHeading | pubmed-meshheading:10899751... | lld:pubmed |
| pubmed-article:10899751 | pubmed:meshHeading | pubmed-meshheading:10899751... | lld:pubmed |
| pubmed-article:10899751 | pubmed:articleTitle | Evidence for a founder effect in Sicilian patients with glycogen storage disease type II. | lld:pubmed |
| pubmed-article:10899751 | pubmed:affiliation | Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy. | lld:pubmed |
| pubmed-article:10899751 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10899751 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
