Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease

TS Blom, MD Linder, K Snow, H Pihko, MW Hess, E Jokitalo, Ville Veckman, AC Syvanen, E Ikonen

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalHuman Molecular Genetics
Volume12
Issue number3
Pages (from-to)257-272
Number of pages16
ISSN0964-6906
DOIs
Publication statusPublished - 1 Feb 2003
MoE publication typeA1 Journal article-refereed

Fields of Science

  • SENSITIVE GEL-ELECTROPHORESIS
  • STEROL-SENSING DOMAIN
  • CHOLESTEROL TRANSPORT
  • LYSOBISPHOSPHATIDIC ACID
  • COMPLEMENTATION GROUP
  • PLASMA-MEMBRANE
  • PROTEIN
  • MUTATIONS
  • GENE
  • HOMEOSTASIS

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