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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1995-9-14
|
| pubmed:abstractText |
A Spanish family with alpha-thalassemia-1 (alpha-Thal-1), deletion (--MA), is described. In addition to the loss of 22 kb of DNA with a deletion of the alpha 1, alpha 2, psi alpha 2, and psi zeta 1 genes, a triplication of the zeta gene cluster in "cis" is produced. The structure of this triplication is formed by the psi zeta 1 gene, the interzeta region, and, possibly, the insertion of the psi alpha 2 fragment.
|
| 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 |
49
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
294-8
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:7639274-Adult,
pubmed-meshheading:7639274-Child,
pubmed-meshheading:7639274-Child, Preschool,
pubmed-meshheading:7639274-Chromosome Mapping,
pubmed-meshheading:7639274-Female,
pubmed-meshheading:7639274-Globins,
pubmed-meshheading:7639274-Humans,
pubmed-meshheading:7639274-Male,
pubmed-meshheading:7639274-Point Mutation,
pubmed-meshheading:7639274-alpha-Thalassemia
|
| pubmed:year |
1995
|
| pubmed:articleTitle |
Molecular characterization of a new family with alpha-thalassemia-1 (--MA mutation).
|
| pubmed:affiliation |
Hematology Service, Hospital Universitario San Carlos, Madrid, Spain.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|