Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)
<p>Abstract</p> <p>Background</p> <p>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...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2006-08-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |