| pubmed-article:2079430 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:2079430 | lifeskim:mentions | umls-concept:C0330390 | lld:lifeskim |
| pubmed-article:2079430 | lifeskim:mentions | umls-concept:C1520105 | lld:lifeskim |
| pubmed-article:2079430 | lifeskim:mentions | umls-concept:C1517356 | lld:lifeskim |
| pubmed-article:2079430 | lifeskim:mentions | umls-concept:C0205419 | lld:lifeskim |
| pubmed-article:2079430 | lifeskim:mentions | umls-concept:C1424276 | lld:lifeskim |
| pubmed-article:2079430 | lifeskim:mentions | umls-concept:C2003941 | lld:lifeskim |
| pubmed-article:2079430 | lifeskim:mentions | umls-concept:C0443343 | lld:lifeskim |
| pubmed-article:2079430 | lifeskim:mentions | umls-concept:C0205251 | lld:lifeskim |
| pubmed-article:2079430 | lifeskim:mentions | umls-concept:C1265611 | lld:lifeskim |
| pubmed-article:2079430 | lifeskim:mentions | umls-concept:C0121395 | lld:lifeskim |
| pubmed-article:2079430 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:2079430 | pubmed:dateCreated | 1991-4-26 | lld:pubmed |
| pubmed-article:2079430 | pubmed:abstractText | A severe hemolytic anemia with microcytosis and hypochromia was present in a young adopted Indian patient. Reversed phase high performance liquid chromatographic methodology and heat stability tests detected an unstable alpha chain which was present in 3 to 5% of the total hemoglobin. A larger quantity of the alpha X chain was obtained by preparative reversed phase high performance liquid chromatography. Structural analyses identified an Ala----Pro replacement at position 130 of the alpha chain. The instability of the variant, named Hb Sun Prairie, is comparable to that of Hb Bibba [alpha 136 (H19)Leu----Pro]. Gene mapping failed to detect an alpha-thalassemia deletion (alpha alpha/alpha alpha), while dot-blot analysis of amplified DNA with synthetic probes localized a G----C mutation in codon 130 (resulting in the Ala----Pro mutation) of the alpha 2-globin genes of both chromosomes. These results suggest a homozygosity for the G----C mutation and the condition alpha 2(G----C)alpha 1/alpha 2(G----C)alpha 1 adequately explains the rather severe clinical status of this child, including the marked microcytosis and hypochromia. Unfortunately, family studies to exclude the presence of a large deletion involving all zeta- and alpha-globin genes were not possible. | lld:pubmed |
| pubmed-article:2079430 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2079430 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2079430 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2079430 | pubmed:language | eng | lld:pubmed |
| pubmed-article:2079430 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2079430 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:2079430 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2079430 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:2079430 | pubmed:issn | 0363-0269 | lld:pubmed |
| pubmed-article:2079430 | pubmed:author | pubmed-author:WilsonJ BJB | lld:pubmed |
| pubmed-article:2079430 | pubmed:author | pubmed-author:HuismanT HTH | lld:pubmed |
| pubmed-article:2079430 | pubmed:author | pubmed-author:HarknessD RDR | lld:pubmed |
| pubmed-article:2079430 | pubmed:author | pubmed-author:KutlarAA | lld:pubmed |
| pubmed-article:2079430 | pubmed:author | pubmed-author:HarknessMM | lld:pubmed |
| pubmed-article:2079430 | pubmed:author | pubmed-author:KutlarFF | lld:pubmed |
| pubmed-article:2079430 | pubmed:author | pubmed-author:WebberB BBB | lld:pubmed |
| pubmed-article:2079430 | pubmed:author | pubmed-author:CodringtonJ... | lld:pubmed |
| pubmed-article:2079430 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:2079430 | pubmed:volume | 14 | lld:pubmed |
| pubmed-article:2079430 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:2079430 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:2079430 | pubmed:pagination | 479-89 | lld:pubmed |
| pubmed-article:2079430 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:2079430 | pubmed:meshHeading | pubmed-meshheading:2079430-... | lld:pubmed |
| pubmed-article:2079430 | pubmed:meshHeading | pubmed-meshheading:2079430-... | lld:pubmed |
| pubmed-article:2079430 | pubmed:meshHeading | pubmed-meshheading:2079430-... | lld:pubmed |
| pubmed-article:2079430 | pubmed:meshHeading | pubmed-meshheading:2079430-... | lld:pubmed |
| pubmed-article:2079430 | pubmed:meshHeading | pubmed-meshheading:2079430-... | lld:pubmed |
| pubmed-article:2079430 | pubmed:meshHeading | pubmed-meshheading:2079430-... | lld:pubmed |
| pubmed-article:2079430 | pubmed:meshHeading | pubmed-meshheading:2079430-... | lld:pubmed |
| pubmed-article:2079430 | pubmed:meshHeading | pubmed-meshheading:2079430-... | lld:pubmed |
| pubmed-article:2079430 | pubmed:meshHeading | pubmed-meshheading:2079430-... | lld:pubmed |
| pubmed-article:2079430 | pubmed:meshHeading | pubmed-meshheading:2079430-... | lld:pubmed |
| pubmed-article:2079430 | pubmed:meshHeading | pubmed-meshheading:2079430-... | lld:pubmed |
| pubmed-article:2079430 | pubmed:year | 1990 | lld:pubmed |
| pubmed-article:2079430 | pubmed:articleTitle | Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2, a new unstable variant occurring in low quantities. | lld:pubmed |
| pubmed-article:2079430 | pubmed:affiliation | Department of Pediatrics, University of Wisconsin, Madison 53792. | lld:pubmed |
| pubmed-article:2079430 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:2079430 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:2079430 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:3039 | entrezgene:pubmed | pubmed-article:2079430 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2079430 | lld:pubmed |
