An Apparent Homozygous Deletion in Maltase-Glucoamylase, a Lesson in the Evolution of SNP Arrays

Single nucleotide polymorphism (SNP) arrays possess clinical potential due to their high throughput capacity, sensitivity and versatility. We used such an array to perform a genome-wide SNP analysis of a patient with a multi-system undiagnosed disease involving peripheral neuropathies and food intol...

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Bibliografiske detaljer
Main Authors: Eccleston, Jason, Koh, Christopher, Markello, Thomas C., Gahl, William A., Heller, Theo
Format: Artigo
Sprog:Inglês
Udgivet: 2012
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3520432/
https://ncbi.nlm.nih.gov/pubmed/23137569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.10.013
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