Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.

about

Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.

Item

http://www.wikidata.org/entity/Q40448774

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh

2015年學術文章

@zh-hant

name

Prevalence of type 5 familial ...... and novel mutations in STXBP2.

@en

type

Item

label

Prevalence of type 5 familial ...... and novel mutations in STXBP2.

@en

prefLabel

Prevalence of type 5 familial ...... and novel mutations in STXBP2.

@en

P1476

Prevalence of type 5 familial ...... and novel mutations in STXBP2

@en

P2093

H H Koo

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

H J Im

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

H J Kang

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

H Kook

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

H Y Shin

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

H-J Baek

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

H-J Kim

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

J J Seo

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

J Y Seo

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

J-S Song

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

P2860

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

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

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

Munc18-1 binding to the neuronal SNARE complex controls synaptic vesicle priming

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

Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood

P304

222-227

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

P31

scholarly article

P356

10.1111/CGE.12682

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

P433

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

P478

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

P50

Chuhl Joo Lyu

P577

2015-11-20T00:00:00Z

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

P698

26451869

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

P921

familial hemophagocytic lymphohistiocytosis