| pubmed-article:3029178 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:3029178 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:3029178 | lifeskim:mentions | umls-concept:C0008533 | lld:lifeskim |
| pubmed-article:3029178 | lifeskim:mentions | umls-concept:C0015491 | lld:lifeskim |
| pubmed-article:3029178 | lifeskim:mentions | umls-concept:C1708726 | lld:lifeskim |
| pubmed-article:3029178 | lifeskim:mentions | umls-concept:C0019409 | lld:lifeskim |
| pubmed-article:3029178 | lifeskim:mentions | umls-concept:C1999216 | lld:lifeskim |
| pubmed-article:3029178 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:3029178 | pubmed:dateCreated | 1987-4-6 | lld:pubmed |
| pubmed-article:3029178 | pubmed:abstractText | DNA from nine hemophilia B patients who produce anti-factor IX inhibitors (antibodies), including two brothers, was analyzed by the Southern blotting method and hybridization with factor IX cDNA, intragenomic, and 3'-flanking probes. Two inhibitor patients were shown to have total deletions of the factor IX gene. Two other inhibitor patients, the brothers, were shown to have a presumably identical complex rearrangement of the factor IX gene involving two separate deletions. The first deletion is of approximately 5.0 kb and removes exon e. The second deletion is between 9 and 29 kb and removes exons g and h but leaves exon f intact. An abnormal Taq I fragment at one end of the deletion junctions acted as a marker for the inheritance of hemophilia B in the patients' family. Five other inhibitor patients have a structurally intact factor IX gene as detected by this method. Our studies indicate that whereas large structural factor IX gene defects predispose hemophilia B patients to developing an anti-factor IX inhibitor, the development of an inhibitor can be associated with other defects of the factor IX gene. | lld:pubmed |
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| pubmed-article:3029178 | pubmed:language | eng | lld:pubmed |
| pubmed-article:3029178 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3029178 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:3029178 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:3029178 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:3029178 | pubmed:issn | 0021-9738 | lld:pubmed |
| pubmed-article:3029178 | pubmed:author | pubmed-author:BloomA LAL | lld:pubmed |
| pubmed-article:3029178 | pubmed:author | pubmed-author:PeakeI RIR | lld:pubmed |
| pubmed-article:3029178 | pubmed:author | pubmed-author:AnikaM SMS | lld:pubmed |
| pubmed-article:3029178 | pubmed:author | pubmed-author:MatthewsR JRJ | lld:pubmed |
| pubmed-article:3029178 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:3029178 | pubmed:volume | 79 | lld:pubmed |
| pubmed-article:3029178 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:3029178 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:3029178 | pubmed:pagination | 746-53 | lld:pubmed |
| pubmed-article:3029178 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:3029178 | pubmed:meshHeading | pubmed-meshheading:3029178-... | lld:pubmed |
| pubmed-article:3029178 | pubmed:year | 1987 | lld:pubmed |
| pubmed-article:3029178 | pubmed:articleTitle | Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients. | lld:pubmed |
| pubmed-article:3029178 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:3029178 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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