title: Alpha+-thalassemia trait caused by a nonsense mutation in the alpha2-globin gene: codon 54 (CAG>TAG).
abstract: We report a new alpha-thalassemia (alpha-thal) point mutation detected in a woman with alpha(+)-thal trait. Sequence analysis identified a nonsense mutation in exon 2 of the alpha2-globin gene, at amino acid codon 54 (CAG>TAG).
authors.affiliation: Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON, Canada.
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: Lynda
authors.initials: L
authors.lastname: Walker
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
mesh_terms: D000368:Aged; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D017354:Point Mutation; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D055542:alpha-Globins