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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1991-2-26
|
| pubmed:abstractText |
DNA analysis of a Northern Thai family with a child affected with beta-thalassemia major revealed a novel deletion of 3.4 kb removing the entire beta-globin gene in the proposita and her mother. Detailed mapping of the deletion located the 5' breakpoint in the region between nucleotides -810 and -128 of the beta-globin locus, and the 3' breakpoint between the Ava II and Xmn I sites located downstream of the beta-globin gene. The father transmitted a codon 17 nonsense mutation, a beta-thalassemia variant common in Thailand, to the child.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0363-0269
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
14
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
157-68
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:2272839-Base Composition,
pubmed-meshheading:2272839-Base Sequence,
pubmed-meshheading:2272839-Child,
pubmed-meshheading:2272839-Chromosome Deletion,
pubmed-meshheading:2272839-DNA,
pubmed-meshheading:2272839-Female,
pubmed-meshheading:2272839-Globins,
pubmed-meshheading:2272839-Humans,
pubmed-meshheading:2272839-Molecular Sequence Data,
pubmed-meshheading:2272839-Mutation,
pubmed-meshheading:2272839-Nucleic Acid Hybridization,
pubmed-meshheading:2272839-Restriction Mapping,
pubmed-meshheading:2272839-Thailand,
pubmed-meshheading:2272839-Thalassemia
|
| pubmed:year |
1990
|
| pubmed:articleTitle |
Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene.
|
| pubmed:affiliation |
Human Genetics Unit, Faculty of Medicine, Chiangmai University, Thailand.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|