Article
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
Human mutation - 1 Jun 2008
Santamaria Raül, Michelakakis Helen, Moraitou Marina, Dimitriou Evangelia, Dominissini Silvia, Grossi Serena, Sánchez-Ollé Gessamí, Chabás Amparo, Pittis María Gabriela, Filocamo Mirella, Vilageliu Lluïsa, Grinberg Daniel
Abstract excerpt
Gaucher disease is an autosomal recessive lysosomal storage disease that is mainly due to mutations in the GBA gene. Most of the mutant alleles described so far bear a single mutation. However, there are a few alleles bearing two or more DNA changes. It has been reported that patients homozygous...
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