NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes (Q42665942)

4 November 2017

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

1 reference

4 November 2017

Peter Bauer

1

1 reference

4 November 2017

Rupert Knoblich

2

1 reference

4 November 2017

Claudia Bauer

3

1 reference

4 November 2017

Ulrich Finckh

4

1 reference

4 November 2017

Antje Hufen

5

1 reference

4 November 2017

Julia Kropp

6

1 reference

4 November 2017

Silja Braun

7

1 reference

4 November 2017

Birgit Kustermann-Kuhn

8

1 reference

4 November 2017

Dörthe Schmidt

9

1 reference

4 November 2017

Klaus Harzer

10

1 reference

4 November 2017

Arndt Rolfs

11

1 reference

4 November 2017

language of work or name

1 reference

1 January 2002

1 reference

4 November 2017

1 reference

4 November 2017

19

1 reference

4 November 2017

1

1 reference

4 November 2017

30-38

1 reference

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

4 November 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

Transmembrane molecular pump activity of Niemann-Pick C1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

From the double-helix to novel approaches to the sequencing of large genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

Recent advances in elucidating Niemann-Pick C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10016

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.10016

1 reference

4 November 2017

1 reference