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Article

Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).

BMC medical genetics - 3 Aug 2006

Brown Justin T, Lahey Cora, Laosinchai-Wolf Walairat, Hadd Andrew G

Abstract excerpt

BACKGROUND: Gaucher disease is a potentially severe lysosomal storage disorder caused by mutations in the human glucocerebrosidase gene (GBA). We have developed a multiplexed genetic assay for eight diseases prevalent in the Ashkenazi population: Tay-Sachs, Gaucher type I, Niemann-Pick types A and B, mucolipidosis type IV, familial dysautonomia, Canavan, Bloom syndrome, and Fanconi anemia type C. This assay...

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PMID: 16887033
DOI: 10.1186/1471-2350-7-69
PMCID: PMC1559599

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