Article
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
Human mutation - 1 Apr 2004
Tanner Stephan M, Li Zhongyuan, Bisson Ryan, Acar Ceren, Oner Cihan, Oner Reyhan, Cetin Mualla, Abdelaal Mohamed A, Ismail Essam A, Lissens Willy, Krahe Ralf, Broch Harald, Gräsbeck Ralph, de la Chapelle Albert
Abstract excerpt
Selective intestinal malabsorption of vitamin B(12) causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively inherited disorder that is believed to be rare except for notable clusters of cases in Finland, Norway, and the Eastern Mediterranean region. The disease can be caused by mutations in either the cubilin (CUBN; MGA1; MIM# 602997) or the amnionless (AMN; MIM# 605799) gene. To explain the...
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