Leukodystrophy

Gene involved
TSEN54

Mutation tested
c.371G>A

Transmission mode : Autosomal recessive

Publication : Störk et al. (2019). TSEN54 missense variant in Standard Schnauzers with leukodystrophy.

Concerned breeds :
Schnauzer Géant
Schnauzer Moyen
Schnauzer Nain

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