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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
1991-6-10
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pubmed:abstractText |
This paper addresses the question of whether abnormalities in ferritin expression in the iron storage disease hemochromatosis (HC) involve major deletions or alterations in regions containing the two ferritin H genes that lie near the disease locus on chromosome 6p. We present evidence from analyses of Southern blots that neither gene is deleted in hemochromatosis. We also describe a polymorphism in one of the genes that we have previously shown to be a processed pseudogene. This polymorphism does not correlate with the presence of HC. The PIC value for this polymorphism was calculated as 0.49.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
86
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
557-61
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:1673957-Blotting, Southern,
pubmed-meshheading:1673957-Chromosomes, Human, Pair 6,
pubmed-meshheading:1673957-Female,
pubmed-meshheading:1673957-Ferritins,
pubmed-meshheading:1673957-Hemochromatosis,
pubmed-meshheading:1673957-Humans,
pubmed-meshheading:1673957-Male,
pubmed-meshheading:1673957-Pedigree,
pubmed-meshheading:1673957-Polymorphism, Restriction Fragment Length
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pubmed:year |
1991
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pubmed:articleTitle |
Polymorphism in a ferritin H gene from chromosome 6p.
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pubmed:affiliation |
Biochemistry Department, Tufts University, School of Medicine, Boston, MA 02111.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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