文献
J-GLOBAL ID:201302240819611160
整理番号:13A1561909
転写共調節因子HCFC1の変異が引き起こしたX連鎖コバラミン障害
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
著者 (20件):
YU Hung-Chun
(Univ. Colorado School of Medicine, CO, USA)
,
SCHARER Gunter
(Univ. Colorado School of Medicine, CO, USA)
,
QUINTANA Anita M.
(Univ. Colorado School of Medicine, CO, USA)
,
COUGHLIN Curtis R., II
(Univ. Colorado School of Medicine, CO, USA)
,
GEIGER Elizabeth A.
(Univ. Colorado School of Medicine, CO, USA)
,
SCHNECK Una
(Univ. Colorado School of Medicine, CO, USA)
,
VAN HOVE Johan L.K.
(Univ. Colorado School of Medicine, CO, USA)
,
SHAIKH Tamim H.
(Univ. Colorado School of Medicine, CO, USA)
,
SLOAN Jennifer L.
(National Inst. of Health, MD, USA)
,
ACHILLY Nathan P.
(National Inst. of Health, MD, USA)
,
MANOLI Irini
(National Inst. of Health, MD, USA)
,
VENDITTI Charles P.
(National Inst. of Health, MD, USA)
,
BREBNER Alison
(McGill Univ., QC, CAN)
,
WATKINS David
(McGill Univ., QC, CAN)
,
ROSENBLATT David S.
(McGill Univ., QC, CAN)
,
SUORMALA Terttu
(Univ. Children’s Hospital, Zuerich, CHE)
,
FOWLER Brian
(Univ. Children’s Hospital, Zuerich, CHE)
,
BAUMGARTNER Matthias R.
(Univ. Children’s Hospital, Zuerich, CHE)
,
BAUMGARTNER Matthias R.
(Univ. Zuerich, Zuerich, CHE)
,
SCHARER Gunter
(Medical Coll. of Wisconsin, WI, USA)
資料名:
American Journal of Human Genetics
(American Journal of Human Genetics)
巻:
93
号:
3
ページ:
506-514
発行年:
2013年
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)