Source:http://linkedlifedata.com/resource/pubmed/id/10975439
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2001-1-4
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pubmed:abstractText |
Four parents of three unrelated families who are obligatory beta-thalassemia heterozygotes and two parents with Hb Knossos are presented. In these subjects, although the red blood cell counts and red cell indices were compatible with beta-thalassemia trait, the Hb A2 values were between 1.9-2.9% of the total hemoglobin. Examination of the delta-globin gene by Southern blot, restriction endonuclease analysis, and by direct sequencing of amplified DNA revealed the presence of the (delta0) -7.2 kb Corfu type deletion, the (delta+) codon 27 (G-->T) and (delta0) IVS-I-2 (T-->C) mutations in trans or in cis with a severe beta-thalassemia allele, and the (delta0) codon 59 (-A) deletion in cis with the betaKnossos allele.
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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:month |
Aug
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pubmed:issn |
0363-0269
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
24
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
195-201
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:10975439-Adult,
pubmed-meshheading:10975439-Child,
pubmed-meshheading:10975439-Child, Preschool,
pubmed-meshheading:10975439-DNA Mutational Analysis,
pubmed-meshheading:10975439-Family Health,
pubmed-meshheading:10975439-Female,
pubmed-meshheading:10975439-Hematologic Tests,
pubmed-meshheading:10975439-Hemoglobin A2,
pubmed-meshheading:10975439-Hemoglobins, Abnormal,
pubmed-meshheading:10975439-Heterozygote,
pubmed-meshheading:10975439-Humans,
pubmed-meshheading:10975439-Infant,
pubmed-meshheading:10975439-Male,
pubmed-meshheading:10975439-Pedigree,
pubmed-meshheading:10975439-Reference Values,
pubmed-meshheading:10975439-Turkey,
pubmed-meshheading:10975439-beta-Thalassemia
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pubmed:year |
2000
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pubmed:articleTitle |
Molecular analysis of turkish beta-thalassemia heterozygotes with normal Hb A2 levels.
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pubmed:affiliation |
Hacettepe University, Faculty of Science, Department of Biology, Beytepe, Ankara, Turkey. roner@hacettepe.edu.tr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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