title: Frameshift mutation in the alpha2-globin gene causing alpha+ -thalassemia: codon 49 (-GC).
abstract: We report a new alpha-thalassemia (alpha-thal) point mutation detected in a woman with alpha(+)-thal. Sequence analyses identified a frameshift mutation at codon 49 (-GC) in exon 2 of the alpha2-globin gene.
authors.affiliation: Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
mesh_terms: D000328:Adult; D002170:Canada; D003062:Codon / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005914:Globins; D006801:Humans; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D005914:Globins