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GenomicsConfirmation of a founder effect in a Northern European population (FRL) of a new beta-globin variant: HBB:c.23 26dup (codons 8/9 (+AGAA))
Beta-thalassemia is a genetic disease caused by a defect in the production of the beta-like globin chain. More than 200 known different variants can lead to the disease and are mainly found in populations that have been exposed to malaria parasites. We recently described a duplication of 4 nucleotid...
EGAS00001000980 | EGA
GenomicsFRL_Microsatellites - samples
A new beta-globin mutation responsible of a beta-thalassemia (HbVar database ID 2928) was observed in 8 unrelated French families. The mutation carriers originated from Nord-Pas-de-Calais, a Northern French region where the chief town is Lille. 5 unrelated mutation carriers were genotyped for a s...
EGAD00010000626 | EGA
GenomicsFRL_SNPs - samples
A new beta-globin mutation responsible of a beta-thalassemia (HbVar database ID 2928) was observed in 8 unrelated French families. The mutation carriers originated from Nord-Pas-de-Calais, a Northern French region where the chief town is Lille. 5 unrelated mutation carriers were genotyped for a s...
EGAD00010000624 | EGA
GenomicsA new beta-globin mutation responsible of a beta-thalassemia (HbVar database ID 2928) was observed in 8 unrelated French familie
Data Access Committee EGAC00001000245
EGAC00001000245 | EGA
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