Article
Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation.
Human genetics - 1 Jul 1996
Heusterspreute M, Derclaye I, Gala J L, Van Geet C, Ferrant A, Malchaire Y, Thonnard J, Vaerman J L, Philippe M
Abstract excerpt
The molecular basis of beta-thalassemia was investigated at the DNA level in 28 Belgians from 14 unrelated families. All the patients were heterozygous for beta-thalassaemia. Seven different mutations were identified using a combination of dot-blot hybridization with allele-specific oligonucleotide probes and direct automated fluorescence-based DNA sequencing. Among these mutations, four are commonly found in the...
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