PFK Deficiency

Gene involved
PFKM

Mutation tested
c.2228G>A

Transmission mode : Autosomal recessive

Publication : Smith et al. (1996). Molecular basis of canine muscle type phosphofructokinase deficiency.

Concerned breeds :
Cocker Spaniel Américain
Cocker Spaniel Anglais
English Springer Spaniel
Whippet

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