Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.

Autor: Pilz, Robert, Opálka, Lukáš, Majcher, Adam, Grimm, Elisabeth, Maldergem, Lionel Van, Mihalceanu, Silvia, Schäkel, Knut, Enk, Alexander, Aubin, François, Bursztejn, Anne-Claire, Brischoux-Boucher, Elise, Fischer, Judith, Sandhoff, Roger
Zdroj: Human Molecular Genetics; 4/1/2022, Vol. 31 Issue 7, p1105-1114, 10p
Databáze: Complementary Index