| pubmed-article:19958186 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19958186 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:19958186 | lifeskim:mentions | umls-concept:C0017258 | lld:lifeskim |
| pubmed-article:19958186 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:19958186 | lifeskim:mentions | umls-concept:C0033053 | lld:lifeskim |
| pubmed-article:19958186 | lifeskim:mentions | umls-concept:C0005221 | lld:lifeskim |
| pubmed-article:19958186 | lifeskim:mentions | umls-concept:C1882417 | lld:lifeskim |
| pubmed-article:19958186 | lifeskim:mentions | umls-concept:C0443288 | lld:lifeskim |
| pubmed-article:19958186 | lifeskim:mentions | umls-concept:C0185125 | lld:lifeskim |
| pubmed-article:19958186 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:19958186 | lifeskim:mentions | umls-concept:C0449774 | lld:lifeskim |
| pubmed-article:19958186 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:19958186 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:19958186 | pubmed:dateCreated | 2009-12-4 | lld:pubmed |
| pubmed-article:19958186 | pubmed:abstractText | beta-Thalassemia (beta-thal) is a major health problem in Iran and the incidence of carriers is around 3-4%. The disease is caused by heterogeneous mutations in the beta-globin gene and is characterized by hypochromic microcytic anemia. The human beta-globin complex spans a region of 70 kb and contains over 20 restriction fragment length polymorphisms (RFLPs). At least nine RFLP markers including RsaI/beta in the beta-globin gene cluster have been routinely exploited for prenatal diagnosis. Here, we report a novel polymorphism upstream of the beta-globin gene characterized by RsaI digestion. Sequencing of a fragment containing this area showed a nucleotide change (T>C) at position -223 upstream of the beta-globin gene. This change could interfere with precise interpretation of the RsaI digestion pattern in linkage analysis and prenatal diagnosis of beta-thal. | lld:pubmed |
| pubmed-article:19958186 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19958186 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19958186 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19958186 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19958186 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19958186 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19958186 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19958186 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19958186 | pubmed:issn | 1532-432X | lld:pubmed |
| pubmed-article:19958186 | pubmed:author | pubmed-author:ZeinaliSirous... | lld:pubmed |
| pubmed-article:19958186 | pubmed:author | pubmed-author:KarimipoorMor... | lld:pubmed |
| pubmed-article:19958186 | pubmed:author | pubmed-author:ValaeiAtefehA | lld:pubmed |
| pubmed-article:19958186 | pubmed:author | pubmed-author:BayatFatemehF | lld:pubmed |
| pubmed-article:19958186 | pubmed:author | pubmed-author:KordafshariAl... | lld:pubmed |
| pubmed-article:19958186 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19958186 | pubmed:volume | 33 | lld:pubmed |
| pubmed-article:19958186 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19958186 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19958186 | pubmed:pagination | 417-21 | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:meshHeading | pubmed-meshheading:19958186... | lld:pubmed |
| pubmed-article:19958186 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19958186 | pubmed:articleTitle | A novel polymorphism causes a different restriction pattern by RsaI in the beta-globin gene cluster: application in prenatal diagnosis. | lld:pubmed |
| pubmed-article:19958186 | pubmed:affiliation | National Reference Centre For Prenatal Diagnosis of Thalassaemia and Haemoglobinopathies, Pasteur Institute of Iran, Tehran, Iran 13164. | lld:pubmed |
| pubmed-article:19958186 | pubmed:publicationType | Journal Article | lld:pubmed |
| entrez-gene:3043 | entrezgene:pubmed | pubmed-article:19958186 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19958186 | lld:entrezgene |
