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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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Detalhes bibliográficos
Main Authors: Eccleston, Jason, Koh, Christopher, Markello, Thomas C., Gahl, William A., Heller, Theo
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha: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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