An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays.

@article{Eccleston2012AnAH,
  title={An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays.},
  author={Jason L. Eccleston and Christopher K. H. Koh and Thomas C Markello and William A Gahl and Theo Heller},
  journal={Molecular genetics and metabolism},
  year={2012},
  volume={107 4},
  pages={
          674-8
        }
}
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 starch digestion enzyme, predicting absence of enzyme activity and potential starch… CONTINUE READING
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