Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome (Q81751702)

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11 January 2020

title

Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome (English)

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11 January 2020

main subject

Chediak-Higashi syndrome

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1

Wafika Zarzour

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11 January 2020

author name string

Robert Kleta

2

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11 January 2020

Haydar Frangoul

3

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11 January 2020

Pim Suwannarat

4

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11 January 2020

Anna Jeong

5

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11 January 2020

Su Young Kim

6

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11 January 2020

Alan S Wayne

7

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11 January 2020

Meral Gunay-Aygun

8

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11 January 2020

James White

9

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11 January 2020

Alexandra H Filipovich

10

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11 January 2020

William A Gahl

11

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11 January 2020

publication date

25 March 2005

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Molecular Genetics and Metabolism

11 January 2020

published in

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volume

85

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issue

2

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11 January 2020

page(s)

125-132

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

11 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.011

Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome

7 January 2021

1 reference

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Defective granulocyte chemotaxis in the Chediak-Higashi syndrome

7 January 2021

1 reference

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Natural killer (HNK-1+) cells in Chediak-Higashi patients are present in normal numbers but are abnormal in function and morphology

7 January 2021

1 reference

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The accelerated phase of Chediak-Higashi syndrome. An expression of the virus-associated hemophagocytic syndrome?

7 January 2021

1 reference

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Accelerated phase at initial presentation: an uncommon occurrence in Chédiak-Higashi syndrome

7 January 2021

1 reference

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The Chediak-Higashi-Steinbrinck syndrome. Presentation of three cases with features resembling spinocerebellar degeneration

7 January 2021

1 reference

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Neuropathological changes in Chédiak-Higashi disease

7 January 2021

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

7 January 2021

1 reference

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Identification of the homologous beige and Chediak-Higashi syndrome genes

7 January 2021

1 reference

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

7 January 2021

1 reference

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Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse

7 January 2021

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Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder

7 January 2021

1 reference

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Lytic granules, secretory lysosomes and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.011

Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles

7 January 2021

1 reference

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Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.011

Normal-sized primary lysosomes are present in Chediak-Higashi syndrome neutrophils

7 January 2021

1 reference

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Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.011

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.011

Split chimerism after allogeneic bone marrow transplantation in Chediak-Higashi syndrome

7 January 2021

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10.1016/J.YMGME.2005.02.011

7 January 2021

Identifiers

DOI

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11 January 2020

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