(Q42642928)

4 November 2017

title

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome (English)

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4 November 2017

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4 November 2017

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4 November 2017

Spritz RA

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4 November 2017

Nagle DL

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4 November 2017

Karim MA

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4 November 2017

Woolf EA

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4 November 2017

Holmgren L

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4 November 2017

Misumi DJ

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4 November 2017

McGrail SH

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4 November 2017

Dussault BJ Jr

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4 November 2017

Boissy RE

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4 November 2017

Duyk GM

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4 November 2017

Moore KJ

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4 November 2017

language of work or name

English

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publication date

1 November 1996

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4 November 2017

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4 November 2017

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4 November 2017

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4 November 2017

page(s)

307-311

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Defective lysosomal enzyme secretion in kidneys of Chediak-Higashi (beige) mice

4 November 2017

cites work

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https://api.crossref.org/works/10.1038%2FNG1196-307

Identification of the murine beige gene by YAC complementation and positional cloning

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG1196-307

Identification of the homologous beige and Chediak-Higashi syndrome genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

21 January 2018

Protein sequence motifs

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https://api.crossref.org/works/10.1038%2FNG1196-307

A repeating amino acid motif shared by proteins with diverse cellular roles

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

The ancient regulatory-protein family of WD-repeat proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

Crystal structure of a G-protein beta gamma dimer at 2.1A resolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

Analysis of compositionally biased regions in sequence databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

Applying motif and profile searches

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

Chediak-Higashi lymphoblastoid cell lines: granule characteristics and expression of lysosome-associated membrane proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes

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https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

Giant granules in leukocytes of the beige mouse

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https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

The origin and fate of large dense bodies in beige mouse fibroblasts. Lysosomal fusion and exocytosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

HEAT repeats in the Huntington's disease protein

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

RAFT1: a mammalian protein that binds to FKBP12 in a rapamycin-dependent fashion and is homologous to yeast TORs

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

TOR kinase domains are required for two distinct functions, only one of which is inhibited by rapamycin

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

alpha- and beta-forms of the 65-kDa subunit of protein phosphatase 2A have a similar 39 amino acid repeating structure

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

Identification of a protein that interacts with tubulin dimers and increases the catastrophe rate of microtubules

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

Predicting coiled coils from protein sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

A membrane-associated complex containing the Vps15 protein kinase and the Vps34 PI 3-kinase is essential for protein sorting to the yeast lysosome-like vacuole

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

Issues in searching molecular sequence databases

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-307

7 January 2021

Identifiers

DOI

10.1038/NG1196-307

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Dimensions Publication ID

4 November 2017

1030728133

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