Linked Life Data

18294253

Source:http://linkedlifedata.com/resource/pubmed/id/18294253

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2008-3-14
pubmed:abstractText
Beta thalassaemia is a major public health problem in India. A comprehensive database of the spectrum of mutations causing beta thalassaemia in the Indian population is necessary. This study in which a large number of patients with beta thalassaemia including those from certain regions that were not explored earlier shows a great heterogeneity of mutations. Several novel and rare alleles that have not been reported earlier in the Indian population have been identified, and mutations differ in frequency in different regions of the country. This information on the spectrum of mutations has implications for the control of beta thalassaemia in a population with complex ethnic background and also on the genotype-phenotype correlation of the disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1399-0004
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
73
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
331-7
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.
pubmed:affiliation
Department of Haematology, Christian Medical College, Vellore, Tamilnadu, India.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't