[Unique mutation caused beta-thalassemia in four families on the island of Gotland].
This report briefly reviews mutations known to cause beta-thalassemia in endogenous Swedish families. A unique mutation caused by a 12-bp deletion in exon 3 of the beta-globin gene has been found in four separate families originating from the island of Gotland in the Baltic.
Rudolphi
Olle
O
Kliniskt kemiska laboratoriet, Norrlands Universitetssjukhus, Umeå.
Landin
Britta
B
D002872:Chromosome Deletion; D005091:Exons / Q000235:genetics; D006580:Genetic Carrier Screening; D005914:Globins / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013548:Sweden; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins
Okänd mutation gav beta-talassemi i fyra gotländska familjer.