| pubmed-article:8557259 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8557259 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:8557259 | lifeskim:mentions | umls-concept:C0020792 | lld:lifeskim |
| pubmed-article:8557259 | lifeskim:mentions | umls-concept:C0024790 | lld:lifeskim |
| pubmed-article:8557259 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:8557259 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:8557259 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:8557259 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:8557259 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:8557259 | pubmed:dateCreated | 1996-2-23 | lld:pubmed |
| pubmed-article:8557259 | pubmed:abstractText | Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired haemolytic disorder caused by the absence of glycosyl phosphatidylinositol (GPI)-anchored surface proteins resulting from a defect in one step of GPI-anchor biosynthesis. Recent analysis has shown that mutations at the PIG-A (phosphatidylinositoglycan-class A) gene are responsible for GPI-anchor deficiency in all PNH patients. In the current study, we describe three new mutations of the PIG-A gene in Italian patients with PNH. The analysis has been performed by RNA/single-strand conformation polymorphism using genomic DNA purified from nucleated peripheral blood cells. An abnormal pattern of migration of polymerase chain reaction amplified fragments containing exons 2 and 5 was observed. Sequencing analysis led to the identification of three mutations: a transversion C-to-A creating a stop codon (Y98X), an A insertion at position 460 (460insA), and a C deletion (1114delC). All the mutations cause a premature termination of the translation of the PIG-A protein. | lld:pubmed |
| pubmed-article:8557259 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8557259 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8557259 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8557259 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8557259 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8557259 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8557259 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8557259 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8557259 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8557259 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8557259 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:8557259 | pubmed:issn | 0340-6717 | lld:pubmed |
| pubmed-article:8557259 | pubmed:author | pubmed-author:De SandreGG | lld:pubmed |
| pubmed-article:8557259 | pubmed:author | pubmed-author:MustoPP | lld:pubmed |
| pubmed-article:8557259 | pubmed:author | pubmed-author:CarotenutoMM | lld:pubmed |
| pubmed-article:8557259 | pubmed:author | pubmed-author:ZelanteLL | lld:pubmed |
| pubmed-article:8557259 | pubmed:author | pubmed-author:LunardiCC | lld:pubmed |
| pubmed-article:8557259 | pubmed:author | pubmed-author:SavoiaAA | lld:pubmed |
| pubmed-article:8557259 | pubmed:author | pubmed-author:IanzanoLL | lld:pubmed |
| pubmed-article:8557259 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8557259 | pubmed:volume | 97 | lld:pubmed |
| pubmed-article:8557259 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8557259 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8557259 | pubmed:pagination | 45-8 | lld:pubmed |
| pubmed-article:8557259 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:meshHeading | pubmed-meshheading:8557259-... | lld:pubmed |
| pubmed-article:8557259 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8557259 | pubmed:articleTitle | Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients. | lld:pubmed |
| pubmed-article:8557259 | pubmed:affiliation | Servizio di Genetica Medica, I.R.C.C.S. Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy. | lld:pubmed |
| pubmed-article:8557259 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8557259 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:8557259 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:5277 | entrezgene:pubmed | pubmed-article:8557259 | lld:entrezgene |
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| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8557259 | lld:pubmed |
