(Q57224217)

English

Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea

scientific article published on 24 November 2012

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18 February 2020

Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea (English)

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18 February 2020

familial hemophagocytic lymphohistiocytosis

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18 February 2020

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Hyo-Seop Ahn

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18 February 2020

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Ja Young Seo

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18 February 2020

Joon-Sup Song

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18 February 2020

Ki-O Lee

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18 February 2020

Jong-Won Kim

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18 February 2020

Sun-Hee Kim

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18 February 2020

Soo-Hyun Lee

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18 February 2020

Keon-Hee Yoo

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18 February 2020

Ki-Woong Sung

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18 February 2020

Hong Hoe Koo

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18 February 2020

Hyoung Jin Kang

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18 February 2020

Hee Young Shin

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18 February 2020

Dong Kyun Han

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18 February 2020

Hoon Kook

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18 February 2020

Tai Ju Hwang

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18 February 2020

Chuhl-Joo Lyu

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18 February 2020

Mi-Jung Lee

18

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18 February 2020

Ji-Yoon Kim

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18 February 2020

Sung-Shik Park

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18 February 2020

Young-Tak Lim

21

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18 February 2020

Bo-Eun Kim

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18 February 2020

Kyung-Nam Koh

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18 February 2020

Ho Joon Im

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18 February 2020

Jong Jin Seo

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18 February 2020

Hee-Jin Kim

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18 February 2020

Korea Histiocytosis Working Party

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18 February 2020

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24 November 2012

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18 February 2020

Annals of Hematology

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18 February 2020

92

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18 February 2020

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18 February 2020

357-364

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18 February 2020

Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Adverse outcomes in primary hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Haploview: analysis and visualization of LD and haplotype maps

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Haplotype blocks and linkage disequilibrium in the human genome

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

A New Statistical Method for Haplotype Reconstruction from Population Data

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms.

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D

1 reference

https://api.crossref.org/works/10.1007%2FS00277-012-1628-6

21 January 2018

Identifiers

10.1007/S00277-012-1628-6

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18 February 2020

PubMed publication ID

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18 February 2020

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