title: A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family.
abstract: A new beta zero-thalassemia mutation, a frameshift mutation with an insertion of a single cytosine nucleotide in codon 27-28, is described. The propositus, who is compound heterozygous for this mutation and the IVSII-654 C----T beta zero-thalassemia mutation, has the phenotype of severe beta-thalassemia major.
authors.affiliation: Department of Pathology, McMaster University Medical Centre, Hamilton, Toronto, Ontario, Canada.
authors.forename: S P
authors.initials: SP
authors.lastname: Cai
authors.forename: D H
authors.initials: DH
authors.lastname: Chui
authors.forename: J
authors.initials: J
authors.lastname: Ng
authors.forename: A O
authors.initials: AO
authors.lastname: Poon
authors.forename: M H
authors.initials: MH
authors.lastname: Freedman
authors.forename: N F
authors.initials: NF
authors.lastname: Olivieri
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D003596:Cytosine / Q000032:analysis; D004247:DNA / Q000032:analysis / Q000235:genetics; D004251:DNA Transposable Elements; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D013789:Thalassemia / Q000209:etiology / Q000235:genetics*
chemical_list: D003062:Codon; D004251:DNA Transposable Elements; D003596:Cytosine; D004247:DNA