Rapid One-Step Carrier Detection Assay of Mucolipidosis IV Mutations in the Ashkenazi Jewish Population

Two mutations in the MCOLN1 mucolipidosis IV (ML IV) gene represent ∼95% of the mutations in Ashkenazi-Jewish patients with ML IV. The mutations, a splice site mutation (IVS3-2A>G) and an ∼6.4-kb deletion (511del6434), account for 72% and 23% of ML IV alleles in this population, respectively. An...

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Detalhes bibliográficos
Main Authors: Hantash, Feras M., Olson, Susan C., Anderson, Ben, Buller, Arlene, Chen, Rebecca, Crossly, Beryl, Sun, Weimin, Strom, Charles M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2006
Assuntos:
Consultations in Molecular Diagnostics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867596/
https://ncbi.nlm.nih.gov/pubmed/16645217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2006.050026
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