Article
An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays.
Molecular genetics and metabolism - 1 Dec 2012
Eccleston Jason L, Koh Christopher, Markello Thomas C, Gahl William A, Heller Theo
Abstract excerpt
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 intolerances. The patient had a homozygous deletion within the gene encoding maltase-glucoamylase (MGAM), an intestinal...
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