Glycogen Storage Disease type II

Gene involved
GAA

Mutation tested
c.2237G>A

Transmission mode : Autosomal recessive

Publication : Seppälä et al. (2013). A nonsense mutation in the acid _-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

Concerned breeds :

Berger Finnois de Laponie
Chien Finnois de Laponie
Lapphund Suédois

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