Molecular characterization of beta-thalassemia in Czechoslovakia.

doi:10.1007/BF00215673

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Article

Molecular characterization of beta-thalassemia in Czechoslovakia.

Human genetics - 1 Feb 1992

Indrak K, Brabec V, Indrakova J, Chrobak L, Sakalova A, Jarosova M, Cermak J, Fei Y J, Kutlar F, Gu Y C

Abstract excerpt

We have identified different beta-thalassemia mutations in 93 members of 34 families of Czech or Slovakian descent using gene amplification, hybridization with specific 32P-labeled oligonucleotide probes, sequencing of amplified DNA, and gene mapping. The G----A mutation at IVS-I-1 was found in 1...

Topics

Base Sequence
Codon
Czechoslovakia
DNA
Frameshift Mutation
Gene Amplification
Genetic Carrier Screening
Globins
Humans
Incidence
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Thalassemia

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