Source:http://linkedlifedata.com/resource/pubmed/id/18654892
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2008-7-25
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| pubmed:abstractText |
We report two new point mutations causing alpha-thalassemia (alpha-thal) that could not be characterized by conventional biochemical studies. The first mutation is a single base substitution at codon 123 of the alpha1-globin gene [alpha123(H6)Ala-->Pro, GCC>CCC (alpha1)] and leads to the substitution of a proline residue in the H helix. The resulting unstable hemoglobin (Hb) variant has been named Hb Voreppe. The second is a frameshift of the alpha2 gene due to a deletion (-C), either of the third base of codon 112 or of the first base of codon 113, that causes a premature stop codon at position 132.
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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 |
32
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
411-7
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| pubmed:dateRevised |
2008-10-28
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| pubmed:meshHeading |
pubmed-meshheading:18654892-Codon,
pubmed-meshheading:18654892-Frameshift Mutation,
pubmed-meshheading:18654892-Hemoglobins, Abnormal,
pubmed-meshheading:18654892-Humans,
pubmed-meshheading:18654892-Mutation, Missense,
pubmed-meshheading:18654892-Point Mutation,
pubmed-meshheading:18654892-alpha-Thalassemia
|
| pubmed:year |
2008
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| pubmed:articleTitle |
Two new alpha-thalassemia point mutations that are undetectable by biochemical techniques.
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| pubmed:affiliation |
Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.
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| pubmed:publicationType |
Journal Article
|