NPC-db, a Niemann-Pick type C disease gene variation database (Q30483650)

22 June 2017

NPC-db, a Niemann-Pick type C disease gene variation database (English)

1 reference

22 June 2017

Anna Melissa Schlitter

series ordinal

3

object named as

Anna Melissa Schlitter

1 reference

22 June 2017

Heiko Runz

1

1 reference

PubMed ID

18081003

22 June 2017

Dirk Dolle

series ordinal

2

1 reference

PubMed ID

18081003

22 June 2017

Johannes Zschocke

series ordinal

4

1 reference

22 June 2017

1 March 2008

1 reference

22 June 2017

1 reference

22 June 2017

29

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22 June 2017

3

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22 June 2017

345-350

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NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes

22 June 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Proof of "disease causing" mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

A survey of locus-specific database curation. Human Genome Variation Society

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Cellular pathology of Niemann-Pick type C disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

The natural history of Niemann-Pick disease type C in the UK.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Identification of HE1 as the second gene of Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20636

7 January 2021

Identifiers

DOI

10.1002/HUMU.20636

1 reference

22 June 2017

1 reference

PubMed ID

18081003