title: A mutation of the beta-globin gene initiation codon, ATG-->AAG, found in a French Caucasian man.
abstract: A new mutation of the beta-globin gene initiation codon, ATG-->AAG (Met-->Tyr), is reported in a man originating from the southeast of France. Typical hematological findings of beta-thalassemia (thal) trait were found. We emphasize the importance of characterizing uncommon beta-thal mutations for genetic counseling.
authors.affiliation: Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Lacan
authors.forename: Martine
authors.initials: M
authors.lastname: Aubry
authors.forename: Nicole
authors.initials: N
authors.lastname: Couprie
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
mesh_terms: D000328:Adult; D018387:Codon, Initiator / Q000235:genetics*; D005602:France; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D044465:White People; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D018387:Codon, Initiator; D005914:Globins