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

doi:10.1093/hmg/ddg025

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

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Human Molecular Genetics
Volym	12
Nummer	3
Sidor (från-till)	257-272
Antal sidor	16
ISSN	0964-6906
DOI	https://doi.org/10.1093/hmg/ddg025
Status	Publicerad - 1 feb. 2003
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Åtkomst av dokument

10.1093/hmg/ddg025

Citera det här

@article{e4154c1eddf54d63ba99ea08b946e38e,

title = "Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease",

keywords = "SENSITIVE GEL-ELECTROPHORESIS, STEROL-SENSING DOMAIN, CHOLESTEROL TRANSPORT, LYSOBISPHOSPHATIDIC ACID, COMPLEMENTATION GROUP, PLASMA-MEMBRANE, PROTEIN, MUTATIONS, GENE, HOMEOSTASIS",

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

year = "2003",

month = feb,

day = "1",

doi = "10.1093/hmg/ddg025",

language = "English",

volume = "12",

pages = "257--272",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

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}

TY - JOUR

T1 - Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease

AU - Blom, TS

AU - Linder, MD

AU - Snow, K

AU - Pihko, H

AU - Hess, MW

AU - Jokitalo, E

AU - Veckman, Ville

AU - Syvanen, AC

AU - Ikonen, E

PY - 2003/2/1

Y1 - 2003/2/1

KW - SENSITIVE GEL-ELECTROPHORESIS

KW - STEROL-SENSING DOMAIN

KW - CHOLESTEROL TRANSPORT

KW - LYSOBISPHOSPHATIDIC ACID

KW - COMPLEMENTATION GROUP

KW - PLASMA-MEMBRANE

KW - PROTEIN

KW - MUTATIONS

KW - GENE

KW - HOMEOSTASIS

U2 - 10.1093/hmg/ddg025

DO - 10.1093/hmg/ddg025

M3 - Article

VL - 12

SP - 257

EP - 272

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 3

ER -