Exportació completada — 
Carregant...

Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome

Lowe syndrome is an X-linked disorder that has a complex phenotype that includes progressive renal failure and blindness. The disease is caused by mutations in an inositol polyphosphate 5-phosphatase designated OCRL. It has been shown that the OCRL protein is found on the surface of lysosomes and th...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Ungewickell, Alexander J., Majerus, Philip W.
Format: Artigo
Idioma:Inglês
Publicat: The National Academy of Sciences 1999
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC23949/
https://ncbi.nlm.nih.gov/pubmed/10557322
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!