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

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...

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Detalles Bibliográficos
Autores principales: Brown, Justin T, Lahey, Cora, Laosinchai-Wolf, Walairat, Hadd, Andrew G
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559599/
https://www.ncbi.nlm.nih.gov/pubmed/16887033
http://dx.doi.org/10.1186/1471-2350-7-69

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559599/
https://www.ncbi.nlm.nih.gov/pubmed/16887033
http://dx.doi.org/10.1186/1471-2350-7-69

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