| pubmed-article:18923834 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18923834 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:18923834 | lifeskim:mentions | umls-concept:C0019046 | lld:lifeskim |
| pubmed-article:18923834 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:18923834 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:18923834 | lifeskim:mentions | umls-concept:C0205419 | lld:lifeskim |
| pubmed-article:18923834 | lifeskim:mentions | umls-concept:C0002270 | lld:lifeskim |
| pubmed-article:18923834 | lifeskim:mentions | umls-concept:C0205280 | lld:lifeskim |
| pubmed-article:18923834 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:18923834 | pubmed:dateCreated | 2009-6-4 | lld:pubmed |
| pubmed-article:18923834 | pubmed:abstractText | The human alpha-globin genes are paralogues, sharing a high degree of DNA sequence similarity and producing an identical alpha-globin chain. Over half of the alpha-globin structural variants reported to date are only characterized at the amino acid level. It is likely that a fraction of these variants, with phenotypes differing from one observation to another, may be due to the same mutation but on a different alpha-globin gene. There have been very few previous examples of hemoglobin variants that can be found at both HBA1 and HBA2 genes. Here, we report the results of a systematic multicenter study in a large multiethnic population to identify such variants and to analyze their differences from a functional and evolutionary perspective. We identified 14 different Hb variants resulting from identical mutations on either one of the two human alpha-globin paralogue genes. We also showed that the average percentage of hemoglobin variants due to a HBA2 gene mutation (alpha2) is higher than the percentage of hemoglobin variants due to the same HBA1 gene mutation (alpha1) and that the alpha2/alpha1 ratio varied between variants. These alpha-globin chain variants have most likely occurred via recurrent mutations, gene conversion events, or both. Based on these data, we propose a nomenclature for hemoglobin variants that fall into this category. | lld:pubmed |
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| pubmed-article:18923834 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18923834 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18923834 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18923834 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18923834 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18923834 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18923834 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18923834 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18923834 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18923834 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18923834 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18923834 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:18923834 | pubmed:issn | 1432-0584 | lld:pubmed |
| pubmed-article:18923834 | pubmed:author | pubmed-author:WajcmanHenriH | lld:pubmed |
| pubmed-article:18923834 | pubmed:author | pubmed-author:PatrinosGeorg... | lld:pubmed |
| pubmed-article:18923834 | pubmed:author | pubmed-author:ChuiDavid H... | lld:pubmed |
| pubmed-article:18923834 | pubmed:author | pubmed-author:PoonMan-ChiuM... | lld:pubmed |
| pubmed-article:18923834 | pubmed:author | pubmed-author:PréhuClaudeC | lld:pubmed |
| pubmed-article:18923834 | pubmed:author | pubmed-author:MoradkhaniKam... | lld:pubmed |
| pubmed-article:18923834 | pubmed:author | pubmed-author:LuoHong-YuanH... | lld:pubmed |
| pubmed-article:18923834 | pubmed:author | pubmed-author:HendersonShir... | lld:pubmed |
| pubmed-article:18923834 | pubmed:author | pubmed-author:OldJohnJ | lld:pubmed |
| pubmed-article:18923834 | pubmed:author | pubmed-author:BalamitsaVera... | lld:pubmed |
| pubmed-article:18923834 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:18923834 | pubmed:volume | 88 | lld:pubmed |
| pubmed-article:18923834 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18923834 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18923834 | pubmed:pagination | 535-43 | lld:pubmed |
| pubmed-article:18923834 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:18923834 | pubmed:meshHeading | pubmed-meshheading:18923834... | lld:pubmed |
| pubmed-article:18923834 | pubmed:meshHeading | pubmed-meshheading:18923834... | lld:pubmed |
| pubmed-article:18923834 | pubmed:meshHeading | pubmed-meshheading:18923834... | lld:pubmed |
| pubmed-article:18923834 | pubmed:meshHeading | pubmed-meshheading:18923834... | lld:pubmed |
| pubmed-article:18923834 | pubmed:meshHeading | pubmed-meshheading:18923834... | lld:pubmed |
| pubmed-article:18923834 | pubmed:meshHeading | pubmed-meshheading:18923834... | lld:pubmed |
| pubmed-article:18923834 | pubmed:meshHeading | pubmed-meshheading:18923834... | lld:pubmed |
| pubmed-article:18923834 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:18923834 | pubmed:articleTitle | Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. | lld:pubmed |
| pubmed-article:18923834 | pubmed:affiliation | Biochimie Génétique, AP-HP, Hôpital Henri Mondor, Créteil, France. | lld:pubmed |
| pubmed-article:18923834 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18923834 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
