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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1996-12-30
|
| pubmed:abstractText |
Hb Aubenas [beta 26(B8)Glu-->Gly] is a mildly unstable variant that was found in a French family without hematological or clinical features. The structural abnormality was determined by protein chemistry methods, including tandem mass spectrometry, and was confirmed by Apa I digestion of a polymerase chain reaction-amplified DNA fragment. Although the substitution involves the same residue as in Hb E, the new nucleotide sequence does not create an additional out-of-frame splice site. The mutated chain is therefore normally synthesized.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
May
|
| pubmed:issn |
0363-0269
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
20
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
113-24
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:8811314-Adolescent,
pubmed-meshheading:8811314-Codon,
pubmed-meshheading:8811314-Electrophoresis, Agar Gel,
pubmed-meshheading:8811314-Female,
pubmed-meshheading:8811314-Globins,
pubmed-meshheading:8811314-Hemoglobin E,
pubmed-meshheading:8811314-Hemoglobins, Abnormal,
pubmed-meshheading:8811314-Humans,
pubmed-meshheading:8811314-Mutation,
pubmed-meshheading:8811314-Polymorphism, Restriction Fragment Length
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
Hb Aubenas [beta 62(B8)Glu-->Gly]: a new variant normally synthesized, affecting the same codon as in Hb E.
|
| pubmed:affiliation |
Unité de Pathologie Moléculaire, Fédération de Biochimie Hôpital Edouard Herriot, Lyon, France.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|