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Glycogen Storage Disease II (GSDII) GAA Gene

Other Names: Glycogen storage disease type II (Pompe's disease) Glycogen storage disease II, Pompe's disease, GSD II
Genes Affected: GAA
Inheritance: Autosomal Recessive
Mutation: CanFam3.1 9g.1603730C>T c.2237G>A
OMIA link: 000419-9615


Appropriate breeds for testing: Finnish Lapphund, Swedish Lapphund


References:
Seppälä EH, Reuser AJ, Lohi H. A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One. 2013;8(2):e56825

Glycogen Storage Disease II (GSDII) GAA Gene

C$65.00Price

5 tests et + 55$ch.

Quantity

 Après la réception de vos échantillons au laboratoire, veuillez prévoir un délai de 10 à 15 jours ouvrables pour l’envoi de vos résultats.

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