Dominant beta-thalassemia due to a newly identified frameshift mutation in exon 3 (codon 113, GTG-->Tg).
Waye
John S
JS
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, Ontario, Canada. wayej@mcmail.cis.mcmaster.ca
Walker
Lynda
L
Lafferty
John
J
Lemire
Edmond G
EG
Chui
David H K
DH
D000328:Adult; D001803:Blood Transfusion; D003062:Codon / Q000235:genetics; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D005060:Europe / Q000208:ethnology; D005091:Exons / Q000235:genetics; D005492:Folic Acid / Q000627:therapeutic use; D016368:Frameshift Mutation; D005799:Genes, Dominant; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D009864:Ontario; D017422:Sequence Analysis, DNA; D013156:Splenectomy; D017086:beta-Thalassemia / Q000235:genetics* / Q000628:therapy
D003062:Codon; D005914:Globins; D005492:Folic Acid