Linked Life Data

2467497

Source:http://linkedlifedata.com/resource/pubmed/id/2467497

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1989-5-8
pubmed:abstractText
A total of 38 patients with beta-thalassemia intermedia from 30 families were were studied. Twelve of the thirty unrelated patients had beta zero-thalassemia which was due to a homozygosity for one of two different thalassemia defects, namely the frameshift at codon 8, and the IVS-II-1 G----A mutation. Another mild variation, a beta +-thalassemia, was a homozygosity for the mutation of T----C at position 6 of IVS-1 (10 patients). Compound heterozygosities for mild thalassemic determinants or for one mild and one severe beta-thalassemic determinant were also found in some patients with beta-thalassemia intermedia. The mutations at beta-39 and IVS-I-110 were the most commonly occurring thalassemic determinants in these patients. Correlations between genotype and phenotype indicated significant differences in some of the hematological parameters among patients with the IVS-I-6 and the frameshift at codon 8, IVS-I-6 and IVS-II-1, and the frameshift at codon 8 and IVS-II-1 mutations.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0001-5792
pubmed:author
pubmed:issnType
Print
pubmed:volume
81
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
22-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Molecular heterogeneity of beta-thalassemia intermedia in Turkey.
pubmed:affiliation
Children's Medical Center, Hacettepe University, Ankara, Turkey.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't