NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
about
Endogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C diseaseGenetic and laboratory diagnostic approach in Niemann Pick disease type CThe hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking.Genome sequencing in a case of Niemann-Pick type CNiemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.Liver disease with altered bile acid transport in Niemann-Pick C mice on a high-fat, 1% cholesterol diet.Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.High-content screen for modifiers of Niemann-Pick Type C disease in patient cells.
P2860
Q24644950-1625E827-3ADB-4860-9AFB-3E6598205E82Q26999301-F6FC0A05-9479-45A7-8874-4E886A2710CFQ30235362-3C2802BF-28C9-41B6-95B6-994FCBE09233Q33577880-11875716-93D2-4E92-940C-6416D0ABFC8EQ33635291-FFD4BAE7-8127-435F-8325-C34CB14E00B7Q35775542-348F24A2-96A9-4163-8F0F-9987B6437F9EQ37247214-14A11910-EE33-4039-BBA5-F26D28468A3BQ37397806-F8D33220-A937-45C8-8EA7-97526DDBE848Q37416674-B189D3AE-B810-446B-8BE5-B721FE8D8E3EQ44249142-3FB3A155-512D-422F-9887-2732A5E491E5Q46404317-DAB32C2D-0C91-40ED-BCE8-DF85927283B2Q49757755-2E927559-6028-4E91-BE05-67325D028506Q52585959-0D26E351-2502-469A-B146-C3F8096A055B
P2860
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
@en
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
@nl
type
label
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
@en
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
@nl
prefLabel
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
@en
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
@nl
P2093
P2860
P356
P1433
P1476
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
@en
P2093
Antje Hufen
Arndt Rolfs
Birgit Kustermann-Kuhn
Claudia Bauer
Dörthe Schmidt
Julia Kropp
Klaus Harzer
Peter Bauer
Rupert Knoblich
Silja Braun
P2860
P356
10.1002/HUMU.10016
P577
2002-01-01T00:00:00Z