文献
J-GLOBAL ID:201502214688255774
整理番号:15A0522894
転写:転写伸長因子複合体とコヒーシンを機能的に関連させるAFF4の生殖細胞系列での機能獲得変異が発達障害の見られる症候群を引き起こす
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesion
著者 (28件):
IZUMI Kosuke
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
EDMONDSON Andrew C
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
NOON Sarah
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
ZACKAI Elaine H
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
DEARDORFF Matthew A
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
CLARK Dinah
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
KAUR Maninder
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
KRANTZ Ian D
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
IZUMI Kosuke
(Univ. Tokyo, Tokyo, JPN)
,
NAKATO Ryuichiro
(Univ. Tokyo, Tokyo, JPN)
,
KOMATA Makiko
(Univ. Tokyo, Tokyo, JPN)
,
BANDO Masashige
(Univ. Tokyo, Tokyo, JPN)
,
KATOU Yuki
(Univ. Tokyo, Tokyo, JPN)
,
SHIRAHIGE Katsuhiko
(Univ. Tokyo, Tokyo, JPN)
,
ZHANG Zhe
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
DULIK Matthew C
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
RAJAGOPALAN Ramakrishnan
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
VENDITTI Charles P
(US National Inst. of Health, Maryland, USA)
,
GRIPP Karen
(A.I. duPont Hospital for Children, Delaware, USA)
,
SAMANICH Joy
(Montefiore Medical Center, New York, USA)
,
ZACKAI Elaine H
(Univ. Pennsylvania, Pennsylvania, USA)
,
DEARDORFF Matthew A
(Univ. Pennsylvania, Pennsylvania, USA)
,
ALLEN Julian L
(Univ. Pennsylvania, Pennsylvania, USA)
,
KRANTZ Ian D
(Univ. Pennsylvania, Pennsylvania, USA)
,
ALLEN Julian L
(Children’s Hospital of Philadelphia, Pennsylvania, USA)
,
DORSETT Dale
(St. Louis Univ. School of Medicine, Missouri, USA)
,
MISULOVIN Ziva
(St. Louis Univ. School of Medicine, Missouri, USA)
,
SHIRAHIGE Katsuhiko
(JST-CREST, Kawaguchi, JPN)
資料名:
Nature Genetics
(Nature Genetics)
巻:
47
号:
4
ページ:
338-344
発行年:
2015年04月
JST資料番号:
W0430A
ISSN:
1061-4036
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)