Art
J-GLOBAL ID：201702273821557606   Reference number：17A0285689

Heterozygous mutations in NFKB1 cause immunodeficiency and autoinflammatory episodes

NFKB1におけるヘテロ接合性突然変異は免疫不全症および自己炎症疾患エピソードを引き起こす
Author (22)：
KAUSTIO Meri

About KAUSTIO Meri

(Univ. Helsinki, Helsinki, FIN)

About Univ. Helsinki, Helsinki, FIN

, 
HAAPANIEMI Emma

About HAAPANIEMI Emma

(Folkhalsan Inst. of Genetics, Helsinki, FIN)

About Folkhalsan Inst. of Genetics, Helsinki, FIN

, 
HAAPANIEMI Emma

About HAAPANIEMI Emma

(Karolinska Institutet, Stockholm, SWE)

About Karolinska Institutet, Stockholm, SWE

, 
NURKKALA Helka

About NURKKALA Helka

(Univ. Helsinki, Helsinki, FIN)

About Univ. Helsinki, Helsinki, FIN

, 
PARK Giljun

About PARK Giljun

(Univ. Helsinki, Helsinki, FIN)

About Univ. Helsinki, Helsinki, FIN

, 
EINARSDOTTIR Elisabet

About EINARSDOTTIR Elisabet

(Karolinska Institutet, Stockholm, SWE)

About Karolinska Institutet, Stockholm, SWE

, 
TAMENE Fitsum

About TAMENE Fitsum

(Univ. Helsinki, Helsinki, FIN)

About Univ. Helsinki, Helsinki, FIN

, 
TROTTA Luca

About TROTTA Luca

(Univ. Helsinki, Helsinki, FIN)

About Univ. Helsinki, Helsinki, FIN

, 
MORGUNOVA Ekaterina

About MORGUNOVA Ekaterina

(Karolinska Institutet, Stockholm, SWE)

About Karolinska Institutet, Stockholm, SWE

, 
KRJUTSKOV Kaarel

About KRJUTSKOV Kaarel

(Karolinska Institutet, Stockholm, SWE)

About Karolinska Institutet, Stockholm, SWE

, 
SYRJANEN Jaana

About SYRJANEN Jaana

(Tampere Univ. Hospital, Tampere, FIN)

About Tampere Univ. Hospital, Tampere, FIN

, 
LAGERSTEDT Anssi

About LAGERSTEDT Anssi

(Tampere Univ. Hospital, Tampere, FIN)

About Tampere Univ. Hospital, Tampere, FIN

, 
HELMINEN Merja

About HELMINEN Merja

(Tampere Univ. Hospital, Tampere, FIN)

About Tampere Univ. Hospital, Tampere, FIN

, 
MARTELIUS Timi

About MARTELIUS Timi

(Univ. Helsinki, Helsinki, FIN)

About Univ. Helsinki, Helsinki, FIN

, 
HAUTALA Timo

About HAUTALA Timo

(Oulu Univ. Hospital, Oulu, FIN)

About Oulu Univ. Hospital, Oulu, FIN

, 
MUSTJOKI Satu

About MUSTJOKI Satu

(Univ. Helsinki, Helsinki, FIN)

About Univ. Helsinki, Helsinki, FIN

, 
MUSTJOKI Satu

About MUSTJOKI Satu

(Helsinki Univ. Central Hospital Comprehensive Cancer Center, Helsinki, FIN)

About Helsinki Univ. Central Hospital Comprehensive Cancer Center, Helsinki, FIN

, 
SAARELA Janna

About SAARELA Janna

(Univ. Helsinki, Helsinki, FIN)

About Univ. Helsinki, Helsinki, FIN

, 
KERE Juha

About KERE Juha

(Folkhalsan Inst. of Genetics, Helsinki, FIN)

About Folkhalsan Inst. of Genetics, Helsinki, FIN

, 
KERE Juha

About KERE Juha

(Karolinska Institutet, Stockholm, SWE)

About Karolinska Institutet, Stockholm, SWE

, 
VARJOSALO Markku

About VARJOSALO Markku

(Univ. Helsinki, Helsinki, FIN)

About Univ. Helsinki, Helsinki, FIN

, 
SEPPANEN Mikko

About SEPPANEN Mikko

(Univ. Helsinki, Helsinki, FIN)

About Univ. Helsinki, Helsinki, FIN


Material：
日本人類遺伝学会大会プログラム・抄録集  (日本人類遺伝学会大会)

About 日本人類遺伝学会大会プログラム・抄録集


Volume： 61st(Web)  Page： ROMBUNNO.Thu(5)-O47-5 (WEB ONLY)  Publication year： 2016 
JST Material Number： L1204A  Document type： Proceedings
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)
Thesaurus term：
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
*NF-kappaB

About NF-kappaB

,...
Semi thesaurus term：
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
linkage(genetics)

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,...
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JST classification (4)：
JST classification
Category name(code) classified by JST.
Proteins and peptides in general 
(EB03010N)

About Proteins and peptides in general

,  Structure and chemistry of genes 
(EC02020U)

About Structure and chemistry of genes

,  Genetic variation 
(EC01030Y)

About Genetic variation

,  Immunologic diseases,allergic diseases in general. 
(GD04010C)

About Immunologic diseases,allergic diseases in general.

Terms in the title (5)：
Terms in the title
Keywords automatically extracted from the title.
ヘテロ接合性

About ヘテロ接合性

, 
突然変異

About 突然変異

, 
免疫不全症

About 免疫不全症

, 
自己炎症疾患

About 自己炎症疾患

, 
エピソード

About エピソード


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