Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Margret Petermöller"'
Autor:
Milan Elleder, Margret Petermöller, Petr Chrastina, Heidi Mayrhofer, Ladislav Kuchař, Martin Hřebíček, Befekadu Asfaw, Barbara C. Paton, Linda Berná, Lenka Dvořáková, Martin Staudt, Ingeborg Krägeloh-Mann, Klaus Harzer, Jana Ledvinová, Helena Myskova
Publikováno v:
American Journal of Medical Genetics. Part a
Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65–70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c88d5faac700dd770d94999347d7e4
https://pubmed.ncbi.nlm.nih.gov/19267410
https://pubmed.ncbi.nlm.nih.gov/19267410
