Article
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.
The Journal of molecular diagnostics : JMD - 1 May 2006
Hantash Feras M, Olson Susan C, Anderson Ben, Buller Arlene, Chen Rebecca, Crossly Beryl, Sun Weimin, Strom Charles M
Abstract excerpt
Two mutations in the MCOLN1 mucolipidosis IV (ML IV) gene represent approximately 95% of the mutations in Ashkenazi-Jewish patients with ML IV. The mutations, a splice site mutation (IVS3-2A>G) and an approximately 6.4-kb deletion (511del6434), account for 72% and 23% of ML IV alleles in this pop...
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