Source:http://linkedlifedata.com/resource/pubmed/id/19958187
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2009-12-4
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pubmed:abstractText |
We report two Canadian families in which there are four carriers of a novel (G)gamma((A)gammadeltabeta)(0)-thalassemia deletion. The patients all have mild microcytosis and hypochromia, and elevated levels of Hb F ranging from 9.7 to 17.3%. The precise endpoints of the deletion have been identified and are unique relative to other forms of (G)gamma((A)gammadeltabeta)(0)-thal reported in the literature. The deletion encompasses approximately 55.1 kb, beginning approximately 1.6 kb downstream of the (G)gamma-globin gene and extending approximately 29.0 kb downstream of the beta-globin gene.
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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:issn |
1532-432X
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
33
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
422-7
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pubmed:meshHeading |
pubmed-meshheading:19958187-Anemia, Hypochromic,
pubmed-meshheading:19958187-Canada,
pubmed-meshheading:19958187-Family Health,
pubmed-meshheading:19958187-Fetal Hemoglobin,
pubmed-meshheading:19958187-Humans,
pubmed-meshheading:19958187-Sequence Deletion,
pubmed-meshheading:19958187-Thalassemia,
pubmed-meshheading:19958187-beta-Globins,
pubmed-meshheading:19958187-gamma-Globins
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pubmed:year |
2009
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pubmed:articleTitle |
Molecular characterization of a novel 55.1 kb (G)gamma((A)gammadeltabeta)(0)-thalassemia deletion in two Canadian families.
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pubmed:affiliation |
Molecular Diagnostic Genetics, Hamilton Regional Laboratory Medicine Program, Hamilton, ON, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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