The Spectrum of Niemann-Pick Type C Disease in Greece.

about

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.Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann-Pick Type C.

P2860

Q33635291-B558BCE1-2157-45A4-9516-F5F47612E057 Q55516119-9C2448B6-B952-4BF3-9B93-6B17514FB9F7

P2860

The Spectrum of Niemann-Pick Type C Disease in Greece.

Item

http://www.wikidata.org/entity/Q47097196

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

The Spectrum of Niemann-Pick Type C Disease in Greece.

@en

The Spectrum of Niemann-Pick Type C Disease in Greece.

@nl

type

Item

label

The Spectrum of Niemann-Pick Type C Disease in Greece.

@en

The Spectrum of Niemann-Pick Type C Disease in Greece.

@nl

prefLabel

The Spectrum of Niemann-Pick Type C Disease in Greece.

@en

The Spectrum of Niemann-Pick Type C Disease in Greece.

@nl

P1476

The Spectrum of Niemann-Pick Type C Disease in Greece

@en

P2093

Athina Xaidara

http://www.w3.org/2001/XMLSchema#string

Dimitrios Zafeiriou

http://www.w3.org/2001/XMLSchema#string

Evangelia Dimitriou

http://www.w3.org/2001/XMLSchema#string

Helen Michelakakis

http://www.w3.org/2001/XMLSchema#string

Irene Mavridou

http://www.w3.org/2001/XMLSchema#string

Lilia Lycopoulou

http://www.w3.org/2001/XMLSchema#string

Lluisa Vilageliu

http://www.w3.org/2001/XMLSchema#string

Marie T Vanier

http://www.w3.org/2001/XMLSchema#string

Philippe Latour

http://www.w3.org/2001/XMLSchema#string

Sevasti Bostantjopoulou

http://www.w3.org/2001/XMLSchema#string

P2860

Niemann-Pick disease type C

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

Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-acti

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

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

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

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.

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

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

Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D)

P304

41-48

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/8904_2016_41

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

D Grinberg

P577

2017-01-20T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

28105569

http://www.w3.org/2001/XMLSchema#string

P932

5680277

http://www.w3.org/2001/XMLSchema#string

The Spectrum of Niemann-Pick Type C Disease in Greece.

about

P2860

P2860

The Spectrum of Niemann-Pick Type C Disease in Greece.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P932