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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1994-8-15
|
| pubmed:abstractText |
A recently initiated collaboration between Russian and American institutions has resulted in the characterization of several known or new beta-thalassemia alleles and unstable hemoglobin types. Nine known beta-thalassemia alleles were present which have also been found in Mediterranean, East Asian, and Black populations; the possibility of independent mutations for some of the rare alleles should be considered. Hb Durham-N.C./Brescia with a codon 114 (CTG-->CCG; Leu-->Pro) change was present in six members of two families. This condition and two new variants have the characteristics of a dominant type of beta-thalassemia heterozygosity with moderate anemia, Heinz body formation, splenomegaly, etc. One new beta-thalassemia allele is a frame-shift at codon 124 (-A), while another is characterized by the introduction of an extra proline residue (codon: CCA) between residues Thr (beta 123) and Val (beta 126) to give the sequence -Thr-Pro-Pro-Pro-Val-.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
0361-8609
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
46
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
N
|
| pubmed:pagination |
329-32
|
| pubmed:dateRevised |
2008-11-21
|
| pubmed:meshHeading |
pubmed-meshheading:8037185-Adolescent,
pubmed-meshheading:8037185-Alleles,
pubmed-meshheading:8037185-Amino Acid Sequence,
pubmed-meshheading:8037185-Child,
pubmed-meshheading:8037185-Child, Preschool,
pubmed-meshheading:8037185-Chromosome Mapping,
pubmed-meshheading:8037185-Codon,
pubmed-meshheading:8037185-Drug Stability,
pubmed-meshheading:8037185-Female,
pubmed-meshheading:8037185-Frameshift Mutation,
pubmed-meshheading:8037185-Genetic Variation,
pubmed-meshheading:8037185-Hemoglobins,
pubmed-meshheading:8037185-Heterozygote,
pubmed-meshheading:8037185-Humans,
pubmed-meshheading:8037185-Infant,
pubmed-meshheading:8037185-Male,
pubmed-meshheading:8037185-Molecular Sequence Data,
pubmed-meshheading:8037185-Mutation,
pubmed-meshheading:8037185-beta-Thalassemia
|
| pubmed:year |
1994
|
| pubmed:articleTitle |
Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients.
|
| pubmed:affiliation |
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
|