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

• Egile Nagusiak: Lahey Cora (Egilea), Brown Justin T (Egilea), Laosinchai-Wolf Walairat (Egilea), Hadd Andrew G (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2006-08-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

<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...