Art
J-GLOBAL ID：200902224318966220   Reference number：08A0064119

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

小胞のH+-ATPアーゼのサブユニットであるATP6V0A2の変異により引き起こされる異常な糖鎖付加と皮膚弛緩症
Author (20)：
KORNAK Uwe

About KORNAK Uwe

, 
REYNDERS Ellen

About REYNDERS Ellen

, 
DIMOPOULOU Aikaterini

About DIMOPOULOU Aikaterini

, 
VAN REEUWIJK Jeroen

About VAN REEUWIJK Jeroen

(Radboud Univ. Nijmegen Medical Centre, Nijmegen, NLD)

About Radboud Univ. Nijmegen Medical Centre, Nijmegen, NLD

, 
FISCHER Bjoern

About FISCHER Bjoern

, 
RAJAB Anna

About RAJAB Anna

(Directorate General of Health Affairs, Ministry of Health, Muscat, OMN)

About Directorate General of Health Affairs, Ministry of Health, Muscat, OMN

, 
BUDDE Birgit

About BUDDE Birgit

(Univ. Cologne, Cologne, DEU)

About Univ. Cologne, Cologne, DEU

, 
NUERNBERG Peter

About NUERNBERG Peter

(Univ. Cologne, Cologne, DEU)

About Univ. Cologne, Cologne, DEU

, 
FOULQUIER Francois

About FOULQUIER Francois

(Univ. Leuven, Leuven, BEL)

About Univ. Leuven, Leuven, BEL

, 
LEFEBER Dirk

About LEFEBER Dirk

(Univ. Medical Centre Nijmegen, Nijmegen, NLD)

About Univ. Medical Centre Nijmegen, Nijmegen, NLD

, 
URBAN Zsolt

About URBAN Zsolt

(Washington Univ., Missouri, USA)

About Washington Univ., Missouri, USA

, 
GRUENEWALD Stephanie

About GRUENEWALD Stephanie

(Great Ormond Street Hospital for Children Trust NHS, London, GBR)

About Great Ormond Street Hospital for Children Trust NHS, London, GBR

, 
ANNAERT Wim

About ANNAERT Wim

, 
BRUNNER Han G

About BRUNNER Han G

(Radboud Univ. Nijmegen Medical Centre, Nijmegen, NLD)

About Radboud Univ. Nijmegen Medical Centre, Nijmegen, NLD

, 
VAN BOKHOVEN Hans

About VAN BOKHOVEN Hans

(Radboud Univ. Nijmegen Medical Centre, Nijmegen, NLD)

About Radboud Univ. Nijmegen Medical Centre, Nijmegen, NLD

, 
WEVERS Ron

About WEVERS Ron

(Univ. Medical Centre Nijmegen, Nijmegen, NLD)

About Univ. Medical Centre Nijmegen, Nijmegen, NLD

, 
MORAVA Eva

About MORAVA Eva

(Univ. Medical Centre Nijmegen, Nijmegen, NLD)

About Univ. Medical Centre Nijmegen, Nijmegen, NLD

, 
MATTHIJS Gert

About MATTHIJS Gert

(Univ. Leuven, Leuven, BEL)

About Univ. Leuven, Leuven, BEL

, 
VAN MALDERGEM Lionel

About VAN MALDERGEM Lionel

(Univ. de Liege, Liege, BEL)

About Univ. de Liege, Liege, BEL

, 
MUNDLOS Stefan

About MUNDLOS Stefan


Material：
Nature Genetics  (Nat Genet)

About Nature Genetics


Volume： 40  Issue： 1  Page： 32-34  Publication year： Jan. 2008 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 短報  Country of issue： United States (USA)  Language： ENGLISH (EN)
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*H-ATPase

About H-ATPase

,...
Semi thesaurus term：
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
All keywords is available on JDreamIII(charged).
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ATP6V0A2

About ATP6V0A2

,...
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JST classification (1)：
JST classification
Category name(code) classified by JST.
Genetic variation 
(EC01030Y)

About Genetic variation

Terms in the title (6)：
Terms in the title
Keywords automatically extracted from the title.
小胞

About 小胞

, 
H+-ATPアーゼ

About H+-ATPアーゼ

, 
サブユニット

About サブユニット

, 
変異

About 変異

, 
糖鎖付加

About 糖鎖付加

, 
皮膚弛緩症

About 皮膚弛緩症


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