Linked Life Data

11791872

Source:http://linkedlifedata.com/resource/pubmed/id/11791872

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2002-1-15
pubmed:abstractText
The most common causes of alpha-thalassemia are deletions that remove one or both of the functional alpha-globin genes. In addition, more than 30 different point mutations and small deletions/insertions have been reported for the alpha-globin genes. Here, we describe two new mutations occurring in exon 2 of the alpha1-globin gene. One mutation is an insertion of 21 bp that gives rise to a predicted alpha-globin chain containing a duplication of amino acid residues 93-99. The second mutation is a 33 bp deletion resulting in a predicted alpha-globin chain that is missing amino acid residues 64-74. Neither mutation results in a detectable hemoglobin variant, indicating that the variant alpha-globin chains are highly unstable. Carriers of these mutations have mild microcytosis and the phenotype of alpha+-thalassemia trait.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0363-0269
pubmed:author
pubmed:issnType
Print
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
391-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene.
pubmed:affiliation
Provincial Hemoglobinopathy and DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, Ontario, Canada. wayej@mcmail.mcmaster.ca
pubmed:publicationType
Journal Article, Case Reports