Zobrazeno 1 - 1
of 1
pro vyhledávání: '"NPC1 protein, humani"'
Autor:
Ljerka Cvitanović-Šojat, Maša Malenica, Kukuruzović mONIKA, Tamara Žigman, Kristina Kužnik, Ana Bielen
Publikováno v:
Paediatria Croatica
Volume 58
Issue 4
Volume 58
Issue 4
Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder caused by mutations in the NPC1 gene in 95% of cases. Consequently, unesterifi ed cholesterol accumulates in late endosomes/lysosomes causing extremely varied neurovisceral sym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______951::a8f50a3f35c42814fe3f35d1fbeb6d9f
https://hrcak.srce.hr/file/210001
https://hrcak.srce.hr/file/210001
