文献
J-GLOBAL ID:200902274003444613
整理番号:07A0846264
コヒーシン複合体構成員SMC3やSMC1Aの突然変異は主な知的障害を伴うCornelia de Lange症候群の軽度変異型を発症させる
Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation
著者 (20件):
DEARDORFF Matthew A.
(Children’s Hospital of Philadelphia)
,
DEARDORFF Matthew A.
(Univ. Pennsylvania School of Medicine)
,
KAUR Maninder
(Children’s Hospital of Philadelphia)
,
YAEGER Dinah
(Children’s Hospital of Philadelphia)
,
RAMPURIA Abhinav
(Children’s Hospital of Philadelphia)
,
KOROLEV Sergey
(Saint Louis Univ. School of Medicine, MO)
,
PIE Juan
(Universidad de Zaragoza, Zaragoza, ESP)
,
GIL-RODRIGUEZ Concepcion
(Universidad de Zaragoza, Zaragoza, ESP)
,
ARNEDO Maria
(Universidad de Zaragoza, Zaragoza, ESP)
,
LOEYS Bart
(Ghent Univ. Hospital, Ghent, BEL)
,
KLINE Antonie D.
(Harvey Inst. Human Genetics, Baltimore)
,
WILSON Meredith
(Children’s Hospital at Westmead, Sydney, AUS)
,
LILLQUIST Kaj
(Sygehus Vendsyssel, Hjoerring, DNK)
,
SIU Victoria
(Children’s Hospital of Western Ontario, Ontario)
,
RAMOS Feliciano J.
(Universidad de Zaragoza, Zaragoza, ESP)
,
MUSIO Antonio
(Inst. Biomedical Technol., Consiglio Nazionale delle Ricerche, Segrate, ITA)
,
JACKSON Laird S.
(Drexel Univ. School of Medicine, Philadelphia)
,
DORSETT Dale
(Saint Louis Univ. School of Medicine, MO)
,
KRANTZ Ian D.
(Children’s Hospital of Philadelphia)
,
KRANTZ Ian D.
(Univ. Pennsylvania School of Medicine)
資料名:
American Journal of Human Genetics
(American Journal of Human Genetics)
巻:
80
号:
3
ページ:
485-494
発行年:
2007年03月
JST資料番号:
B0360B
ISSN:
0002-9297
資料種別:
逐次刊行物 (A)
発行国:
オランダ (NLD)
言語:
英語 (EN)