Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family.

doi:10.1002/ajh.2830480304

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Article

Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family.

American journal of hematology - 1 Mar 1995

Landin B, Rudolphi O, Ek B

Abstract excerpt

An initiation codon mutation ATG-->ATA of the beta-globin gene was found in seven members of three generations of a family living in northern Sweden. This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then resul...

Topics

Adolescent
Adult
Aged
Amino Acid Sequence
Base Sequence
Child, Preschool
Female
Globins
Hemolysis
Humans
Iron
Male
Molecular Sequence Data
Mutation
Pedigree
Peptide Chain Initiation, Translational
Sweden
beta-Thalassemia

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