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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
|
pubmed:dateCreated |
1993-11-4
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pubmed:abstractText |
We report here on the final results of an epidemiological survey involving 177 beta-thalassaemic chromosomes in Algeria. Four common mutations account for 86% of the chromosomes, the other ones carrying nine other rare mutations. Combination of these results with those of other smaller regional epidemiological studies indicates the existence of still a wider range of mutations. The nature and frequencies of these mutations, their linkage with RFLP-haplotypes, agree well with the history of the region. Knowledge of this spectrum of mutations enables the design of a diagnosis strategy that takes into account the local economical constraints.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
|
pubmed:issn |
0007-1048
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
84
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
335-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8104463-Adolescent,
pubmed-meshheading:8104463-Algeria,
pubmed-meshheading:8104463-Child,
pubmed-meshheading:8104463-Haplotypes,
pubmed-meshheading:8104463-Humans,
pubmed-meshheading:8104463-Mutation,
pubmed-meshheading:8104463-Polymerase Chain Reaction,
pubmed-meshheading:8104463-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:8104463-beta-Thalassemia
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pubmed:year |
1993
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pubmed:articleTitle |
The spectrum of beta-thalassaemia in Algeria: possible origins of the molecular heterogeneity and a tentative diagnostic strategy.
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pubmed:affiliation |
Centre de Transfusion Sanguine, Hôpital Mustapha, Alger, Algérie.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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