De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy.

doi:10.1002/(sici)1096-8652(199711)56:3<179::aid-ajh8>3.0.co;2-v

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Article

De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy.

American journal of hematology - 1 Nov 1997

Waye J S, Eng B, Patterson M, Barr R D, Chui D H

Abstract excerpt

We present a case of beta-thalassemia intermedia involving a 13-year-old boy of Northern European descent. His mother, father and older sister have normal hematologic indices. Molecular studies demonstrate that the proband carries a novel mutation of the beta-globin gene initiation codon (ATG-->A...

Topics

Adolescent
Adult
Codon, Initiator
Europe
Female
Globins
Hematologic Tests
Humans
Male
Middle Aged
Phenotype
Point Mutation
Polymerase Chain Reaction
Sequence Analysis, DNA
beta-Thalassemia

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