(Q44199173)

30 November 2017

Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease (English)

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Niemann–Pick disease, type C

30 November 2017

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G Schmitz

6

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author name string

W E Kaminski

1

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30 November 2017

H H Klünemann

2

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30 November 2017

B Ibach

3

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30 November 2017

C Aslanidis

4

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30 November 2017

H E Klein

5

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30 November 2017

1 September 2002

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Journal of Inherited Metabolic Disease

30 November 2017

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30 November 2017

25

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30 November 2017

5

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30 November 2017

385-389

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https://scigraph.springernature.com/pub.10.1023/a:1020151801060

30 November 2017

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cites work

The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The structure and function of the Niemann-Pick C1 protein

1 reference

12 December 2020

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

1 reference

12 December 2020

Transmembrane molecular pump activity of Niemann-Pick C1 protein

1 reference

12 December 2020

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

1 reference

12 December 2020

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1020151801060

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Dimensions Publication ID

30 November 2017

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1 reference